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
BOP1_chr8_144257045_144296438	144281029	CTTTAATA others(113): Show CTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTCTTCGG CCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACC AGGTCTTAGGCCTTCTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	398	0.0025	-120	c.310 others(17): Show c.310-4845_310-4726del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281144	TCTCAGTT others(113): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0040 a0001c0010t0001g0040	1	398	0.0025	-120	c.310 others(17): Show c.310-4960_310-4841del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	TCTCAGTT others(113): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	398	0.0025	-120	c.310 others(17): Show c.310-5260_310-5141del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BSN_chr3_49549477_49676549	49605436	TATTATAT others(113): Show TATTATATATATTATATAATATATATTATATATAATATATATTATATAAT ATATATTATATATAATATATATTATATAATATATATATAATATATAATAT ATATTATATATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02895.hp1 others(2): Show HG02451.hp2 HG02486.hp1 HG02895.hp1 HG03130.hp2 NA20300.hp2	a0005 a0005	a0005c0007 a0005c0032 a0005c0034 a0005c0007 a0005c0032 a0005c0034	a0005c0007t0007 a0005c0007t0033 a0005c0007t0034 others(2): Show a0005c0007t0007 a0005c0007t0033 a0005c0007t0034 a0005c0032t0007 a0005c0034t0015	a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 others(2): Show a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 a0005c0032t0007g0080 a0005c0034t0015g0001	5	186	0.0269	-120	c.225 others(19): Show c.225-19536_225-19417del	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1orf159_chr1_1076823_1121089	1077257	TGGGGACT others(113): Show TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCC GTGCCGGGAGGCTGAGGCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18970.hp2 HG03942.hp2 NA18970.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0003 a0001c0001t0001 a0005c0011t0003	a0001c0001t0001g0001 a0005c0011t0003g0088 a0001c0001t0001g0001 a0005c0011t0003g0088	2	326	0.0061	-120	c.55 others(11): Show c.5516_*5635del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4565		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077271	CGGGAGGC others(113): Show CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTG AGGCTACGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	326	0.0031	-120	c.55 others(11): Show c.5502_*5621del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4551		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077287	TGGGGACT others(113): Show TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAG GCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0070 a0008c0007t0001g0070	1	326	0.0031	-120	c.54 others(11): Show c.5486_*5605del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4535		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077509	GGGGGGAG others(113): Show GGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGTCTATGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp1 NA19000.hp1 HG02559.hp1 HG02647.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0048 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0001g0048 a0001c0001t0009g0229 a0001c0001t0009g0231	3	326	0.0092	-120	c.52 others(11): Show c.5264_*5383del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4313		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077541	CGAGAGGC others(113): Show CGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02109.hp2 others(6): Show HG01106.hp2 HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0269 a0001c0001t0007g0105 a0001c0001t0007g0143 others(6): Show a0001c0001t0001g0269 a0001c0001t0007g0105 a0001c0001t0007g0143 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0289 a0001c0001t0007g0290 a0001c0001t0007g0300 a0001c0001t0007g0304	9	326	0.0276	-120	c.52 others(11): Show c.5232_*5351del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4281		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078295	TGGCTGAG others(113): Show TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0131 a0001c0002t0005g0131	1	326	0.0031	-120	c.44 others(11): Show c.4478_*4597del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3527		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078741	GGGGAGGC others(113): Show GGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	326	0.0031	-120	c.40 others(11): Show c.4032_*4151del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3081		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078890	GGGGGAGG others(113): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGG GGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	326	0.0031	-120	c.38 others(11): Show c.3883_*4002del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2932		chr1	TogoVar
CABLES1_chr18_23130485_23265470	23218258	ACATCCTC others(113): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0015 a0001c0012t0015	a0001c0012t0015g0081 a0001c0012t0015g0081	1	278	0.0036	-120	c.108 others(19): Show c.1088+4222_1088+4341del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218372	GCTCCCGC others(113): Show GCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp2 NA18982.hp2 others(2): Show HG02145.hp1 HG02523.hp2 NA18982.hp2 NA18985.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0271 a0001c0001t0002g0213 a0001c0001t0004g0251 others(2): Show a0001c0001t0001g0271 a0001c0001t0002g0213 a0001c0001t0004g0251 a0001c0001t0011g0195 a0002c0002t0002g0162	5	278	0.0180	-120	c.108 others(19): Show c.1088+4342_1088+4461del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218420	CCTCCCGC others(113): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19074.hp2 NA19090.hp1 HG02027.hp1 NA19074.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 a0001c0001t0001 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0011g0209 a0002c0002t0001g0160 a0001c0001t0001g0062 a0001c0001t0011g0209 a0002c0002t0001g0160	3	278	0.0108	-120	c.108 others(19): Show c.1088+4438_1088+4557del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218492	CCTCCCGC others(113): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0026 a0007c0013t0026	a0007c0013t0026g0002 a0007c0013t0026g0002	1	278	0.0036	-120	c.108 others(19): Show c.1088+4516_1088+4635del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CAMK1D_chr10_12344547_12840545	12623151	TCCTCCCT others(113): Show TCCTCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCGTCCCTCC CTCCTTTCTTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCTTTCTTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0142 a0001c0001t0020g0142	1	214	0.0047	-120	c.225 others(19): Show c.225-43577_225-43458del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK1_chr17_3855315_3898053	3868050	ATCTGGGG others(113): Show ATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTCTGGGGGA GAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCG CCGTCTAACTGATACGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02523.hp2 HG00741.hp2 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0005 a0001c0002t0001 a0002c0001t0005	a0001c0002t0001g0272 a0002c0001t0005g0126 a0001c0002t0001g0272 a0002c0001t0005g0126	2	446	0.0045	-120	c.134 others(19): Show c.1341+1317_1341+1436del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868071	AGTCTAAC others(113): Show AGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC TCTGGGGGAGAAGCAGGCGCC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19083.hp1 HG03130.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0037 a0001c0002t0001 a0001c0002t0037	a0001c0002t0001g0225 a0001c0002t0037g0021 a0001c0002t0001g0225 a0001c0002t0037g0021	2	446	0.0045	-120	c.134 others(19): Show c.1341+1296_1341+1415del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CARD10_chr22_37485362_37524415	37509593	TCCACGAG others(113): Show TCCACGAGCCCTGGCCCTAGTACCTGCTGCAGGCCCTCCTGACCTCCCCG CAGCCTGTGCCCATGAACGCTGGCCCTGGTACCTGCTGCAGGCCCTCCTG ACCCCCCCTCAACCCCCATGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp1 NA20129.hp1 HG03209.hp1 HG03453.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0025 a0003c0018 a0001c0025 a0003c0018	a0001c0025t0002 a0003c0018t0002 a0001c0025t0002 a0003c0018t0002	a0001c0025t0002g0020 a0003c0018t0002g0047 a0003c0018t0002g0048 a0001c0025t0002g0020 a0003c0018t0002g0047 a0003c0018t0002g0048	3	276	0.0109	-120	c.909 others(15): Show c.909+499_909+618del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CASP3_chr4_184622696_184654447	184624483	GGCCTCCA others(113): Show GGCCTCCATCACTGACCTGTTTCTGACCACAGCCTCCATCACTGACCTGT TTCTGACCACAGCCTCCATCACTGACCTGTTTCTGTCCACAGCCTCCATC ACTGACCTGTTTCTGACCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(44): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03209.hp2 HG03669.hp2 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18953.hp1 NA18962.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19063.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0002g0170 a0001c0001t0002g0187 a0001c0001t0003g0004 others(25): Show a0001c0001t0002g0170 a0001c0001t0002g0187 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0111 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0129 a0001c0001t0003g0137 a0001c0001t0004g0042 a0001c0001t0004g0158 a0001c0001t0009g0011	47	366	0.1284	-120	c.46 others(11): Show c.4669_*4788del	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3212		chr4	TogoVar
CASP8_chr2_201255536_201292709	201283654	CGCCCCTC others(113): Show CGCCCCTCACCTCCCGGACGGGGCGGATGGCCGACCACCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp1 HG02074.hp2 others(2): Show HG00423.hp1 HG02071.hp1 HG02074.hp2 HG04184.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0173 a0001c0001t0003g0177 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0228	5	386	0.0130	-120	c.803 others(17): Show c.803-1136_803-1017del	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(113): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01433.hp2 HG01496.hp1 others(5): Show HG00621.hp2 HG01433.hp2 HG01496.hp1 HG03017.hp1 HG04228.hp2 HG06807.hp2 NA18961.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0012 a0001c0002t0029 a0001c0003t0006 a0001c0025t0010	a0001c0001t0001g0132 a0001c0001t0001g0232 a0001c0001t0006g0072 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0232 a0001c0001t0006g0072 a0001c0002t0001g0119 a0001c0002t0012g0170 a0001c0002t0029g0007 a0001c0003t0006g0203 a0001c0025t0010g0144	8	236	0.0339	-120	c.-77 others(19): Show c.-77+16237_-77+16356del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CDH23_chr10_71391920_71820947	71496824	GGTGTACA others(113): Show GGTGTACAGATGGACAGTTGGGATGTCAAAAGGGCTACAGGTGATTCTAA GCTGCAGCCAGGGCTGAAATGACCCTTTGTTGCACTGGGACAGAGGCCCA AGACGGAAGGGATGCCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18963.hp1 NA18966.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(65): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0023 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0043 a0044 a0048 a0050 a0051 a0053 a0054 a0056 a0058 a0060 a0062 a0063 a0064 a0065 a0066 a0069 a0070 a0071 a0072 a0075 a0076 a0078 a0080 a0082 a0084 a0086 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0100 a0102 a0106	a0001c0011 a0001c0014 a0001c0072 others(89): Show a0001c0011 a0001c0014 a0001c0072 a0001c0073 a0001c0079 a0001c0088 a0002c0001 a0002c0074 a0002c0102 a0003c0002 a0003c0012 a0003c0022 a0003c0090 a0003c0091 a0003c0100 a0004c0025 a0004c0027 a0004c0035 a0004c0037 a0005c0044 a0005c0045 a0005c0051 a0006c0013 a0007c0003 a0007c0028 a0008c0005 a0009c0069 a0009c0085 a0010c0004 a0011c0071 a0012c0019 a0013c0009 a0014c0024 a0014c0033 a0015c0030 a0016c0007 a0017c0042 a0017c0055 a0018c0136 a0018c0159 a0019c0053 a0020c0046 a0023c0006 a0025c0140 a0025c0145 a0026c0048 a0028c0075 a0028c0097 a0029c0148 a0030c0135 a0031c0054 a0032c0029 a0034c0062 a0035c0020 a0043c0066 a0044c0143 a0048c0076 a0050c0139 a0051c0147 a0053c0068 a0054c0049 a0056c0160 a0058c0092 a0060c0094 a0062c0086 a0063c0166 a0064c0150 a0065c0099 a0066c0056 a0069c0149 a0070c0152 a0071c0023 a0072c0151 a0075c0081 a0076c0153 a0078c0089 a0080c0050 a0082c0060 a0084c0161 a0086c0058 a0088c0082 a0089c0137 a0090c0021 a0091c0138 a0093c0067 a0094c0057 a0095c0078 a0096c0031 a0097c0083 a0100c0162 a0102c0084 a0106c0063	a0001c0011t0004 a0001c0014t0031 a0001c0072t0003 others(98): Show a0001c0011t0004 a0001c0014t0031 a0001c0072t0003 a0001c0073t0026 a0001c0079t0004 a0001c0088t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0032 a0002c0074t0004 a0002c0102t0001 a0003c0002t0001 a0003c0002t0002 a0003c0012t0001 a0003c0012t0002 a0003c0022t0002 a0003c0090t0002 a0003c0091t0001 a0003c0100t0001 a0004c0025t0005 a0004c0027t0005 a0004c0035t0006 a0004c0037t0005 a0005c0044t0003 a0005c0045t0003 a0005c0051t0004 a0006c0013t0004 a0006c0013t0016 a0007c0003t0001 a0007c0028t0023 a0008c0005t0001 a0009c0069t0035 a0009c0085t0002 a0010c0004t0001 a0010c0004t0002 a0011c0071t0005 a0012c0019t0009 a0013c0009t0003 a0013c0009t0004 a0014c0024t0014 a0014c0033t0014 a0015c0030t0001 a0016c0007t0015 a0017c0042t0020 a0017c0055t0006 a0018c0136t0001 a0018c0159t0019 a0019c0053t0001 a0020c0046t0001 a0023c0006t0003 a0025c0140t0008 a0025c0145t0009 a0026c0048t0001 a0028c0075t0004 a0028c0097t0007 a0029c0148t0003 a0030c0135t0018 a0031c0054t0005 a0032c0029t0003 a0034c0062t0001 a0035c0020t0003 a0035c0020t0028 a0043c0066t0033 a0044c0143t0009 a0048c0076t0030 a0050c0139t0008 a0051c0147t0009 a0053c0068t0005 a0054c0049t0001 a0056c0160t0001 a0058c0092t0011 a0060c0094t0001 a0062c0086t0001 a0063c0166t0001 a0064c0150t0001 a0065c0099t0001 a0066c0056t0001 a0069c0149t0008 a0070c0152t0019 a0071c0023t0007 a0072c0151t0034 a0075c0081t0001 a0076c0153t0008 a0078c0089t0001 a0080c0050t0001 a0082c0060t0001 a0084c0161t0008 a0086c0058t0027 a0088c0082t0011 a0089c0137t0025 a0090c0021t0002 a0091c0138t0009 a0093c0067t0007 a0094c0057t0010 a0095c0078t0002 a0096c0031t0007 a0097c0083t0001 a0100c0162t0008 a0102c0084t0016 a0106c0063t0001	a0001c0011t0004g0071 a0001c0011t0004g0086 a0001c0014t0031g0029 others(107): Show a0001c0011t0004g0071 a0001c0011t0004g0086 a0001c0014t0031g0029 a0001c0072t0003g0149 a0001c0073t0026g0089 a0001c0079t0004g0061 a0001c0088t0004g0055 a0002c0001t0001g0156 a0002c0001t0002g0063 a0002c0001t0002g0083 a0002c0001t0003g0090 a0002c0001t0032g0037 a0002c0074t0004g0056 a0002c0102t0001g0192 a0003c0002t0001g0105 a0003c0002t0001g0132 a0003c0002t0001g0134 a0003c0002t0002g0048 a0003c0012t0001g0110 a0003c0012t0002g0077 a0003c0022t0002g0051 a0003c0090t0002g0047 a0003c0091t0001g0194 a0003c0100t0001g0152 a0004c0025t0005g0123 a0004c0027t0005g0044 a0004c0035t0006g0053 a0004c0037t0005g0155 a0005c0044t0003g0079 a0005c0045t0003g0109 a0005c0051t0004g0073 a0006c0013t0004g0059 a0006c0013t0016g0157 a0007c0003t0001g0091 a0007c0003t0001g0119 a0007c0028t0023g0050 a0008c0005t0001g0127 a0008c0005t0001g0128 a0008c0005t0001g0129 a0009c0069t0035g0107 a0009c0085t0002g0067 a0010c0004t0001g0097 a0010c0004t0002g0075 a0010c0004t0002g0087 a0011c0071t0005g0082 a0012c0019t0009g0025 a0012c0019t0009g0026 a0013c0009t0003g0142 a0013c0009t0004g0068 a0014c0024t0014g0066 a0014c0033t0014g0094 a0015c0030t0001g0145 a0016c0007t0015g0103 a0017c0042t0020g0001 a0017c0055t0006g0043 a0018c0136t0001g0113 a0018c0159t0019g0039 a0019c0053t0001g0131 a0020c0046t0001g0140 a0023c0006t0003g0167 a0025c0140t0008g0002 a0025c0145t0009g0023 a0026c0048t0001g0154 a0028c0075t0004g0060 a0028c0097t0007g0186 a0029c0148t0003g0188 a0030c0135t0018g0030 a0031c0054t0005g0118 a0032c0029t0003g0196 a0034c0062t0001g0108 a0035c0020t0003g0172 a0035c0020t0028g0184 a0043c0066t0033g0038 a0044c0143t0009g0016 a0048c0076t0030g0010 a0050c0139t0008g0009 a0051c0147t0009g0022 a0053c0068t0005g0104 a0054c0049t0001g0081 a0056c0160t0001g0141 a0058c0092t0011g0012 a0060c0094t0001g0161 a0062c0086t0001g0168 a0063c0166t0001g0187 a0064c0150t0001g0175 a0065c0099t0001g0138 a0066c0056t0001g0179 a0069c0149t0008g0005 a0070c0152t0019g0035 a0071c0023t0007g0174 a0072c0151t0034g0036 a0075c0081t0001g0160 a0076c0153t0008g0021 a0078c0089t0001g0159 a0080c0050t0001g0180 a0082c0060t0001g0173 a0084c0161t0008g0018 a0086c0058t0027g0176 a0088c0082t0011g0028 a0089c0137t0025g0064 a0090c0021t0002g0085 a0091c0138t0009g0024 a0093c0067t0007g0177 a0094c0057t0010g0008 a0095c0078t0002g0049 a0096c0031t0007g0139 a0097c0083t0001g0166 a0100c0162t0008g0020 a0102c0084t0016g0147 a0106c0063t0001g0148	110	196	0.5612	-120	c.146 others(19): Show c.146-13256_146-13137del	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	3/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(113): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG01258.hp1 others(11): Show HG00438.hp2 HG01257.hp1 HG01258.hp1 HG01981.hp1 HG02735.hp2 HG02965.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18966.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010	a0001c0001t0002 a0001c0001t0047 a0001c0001t0078 others(6): Show a0001c0001t0002 a0001c0001t0047 a0001c0001t0078 a0002c0002t0003 a0002c0002t0010 a0002c0002t0044 a0002c0005t0012 a0002c0005t0022 a0002c0010t0003	a0001c0001t0002g0029 a0001c0001t0047g0091 a0001c0001t0078g0149 others(11): Show a0001c0001t0002g0029 a0001c0001t0047g0091 a0001c0001t0078g0149 a0002c0002t0003g0042 a0002c0002t0003g0054 a0002c0002t0003g0092 a0002c0002t0010g0036 a0002c0002t0010g0037 a0002c0002t0010g0039 a0002c0002t0010g0044 a0002c0002t0044g0038 a0002c0005t0012g0052 a0002c0005t0022g0053 a0002c0010t0003g0056	14	208	0.0673	-120	c.210 others(19): Show c.210+18968_210+19087del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CFAP221_chr2_119539449_119661661	119552710	TAGAAATA others(113): Show TAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTAAT AAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATA TTTCTTTAATAAGAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01978.hp2 others(10): Show HG01243.hp1 HG01496.hp1 HG01978.hp2 HG02273.hp1 HG02451.hp1 HG02818.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp1 NA18970.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0007 a0009c0015 a0001c0001 a0001c0007 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0009c0015t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0002g0020 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0007t0001g0003 a0001c0007t0001g0160 a0001c0007t0001g0161 a0009c0015t0002g0153	13	226	0.0575	-120	c.240 others(17): Show c.240+3559_240+3678del	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP54_chr12_96484577_96880555	96825366	TTATGTAA others(113): Show TTATGTAACATGTGTTATATATTATGTAACATGTTGTATTATATAATATG TAACATGTTATATTATATATAATATATGTTATATTATATATAATATAATA TATTATATATATTATATAACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0038 a0021c0023t0001g0038	1	268	0.0037	-120	c.909 others(19): Show c.9097-3644_9097-3525del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20357513	GAGGGGAG others(113): Show GAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAG GGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCAC ACTGAGAGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	236	0.0085	-120	c.351 others(19): Show c.3514-2696_3514-2577del	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHCHD6_chr3_126699240_126965420	126865085	TTCCTCCT others(113): Show TTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCT CCACCACCACCTCCTTTTCCACCACCTCCACTTCTTCCTCCTCCTCCTCC ACTACCACCTCCACTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02809.hp1 NA19030.hp2 HG01255.hp1 HG02809.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0002g0094 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0002g0094	3	216	0.0139	-120	c.495 others(19): Show c.495+12384_495+12503del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHEK1_chr11_125620163_125662147	125659132	ACTAGTCT others(113): Show ACTAGTCTTCATTGATATCCAATCAAGTACTCAAATGTTTTAATTATTTT TTATACTTTGTATTGAATCAGATCCAAATAAAGTTTAAACATAATAATCG ATTGATGTCTTTTAAGTTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	384	0.0026	-120	c.38 others(11): Show c.3813_*3932del	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding		1986		chr11	TogoVar
CLN8_chr8_1758789_1791570	1763524	CCCCCCGC others(113): Show CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGC CCCGCCCCCCGCCGCGCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	413	0.0024	-120	c.-48 others(9): Show c.-484_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		264		chr8	TogoVar
CNGA1_chr4_47930977_48021681	47976161	ATATATAT others(113): Show ATATATATATACACATACATATATATATACATATATATGTATATATATAT ATACACATACATATATATATACATATATATGTATATATATATACACATAC ATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp2 HG02970.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0076 a0002c0002t0002g0097 a0001c0001t0003g0076 a0002c0002t0002g0097	2	366	0.0055	-120	c.-15 others(17): Show c.-15+5112_-15+5231del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
COL23A1_chr5_178232618_178595393	178448110	ACAGTCCG others(113): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTT TTGTTCTGTTAGTGCTAGTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(51): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01074.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03491.hp2 HG03669.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp2 NA18973.hp1 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0002c0002 others(11): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0014 a0003c0005 a0003c0007 a0003c0024 a0004c0006 a0005c0008 a0006c0018 a0007c0010 a0008c0019 a0009c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0014t0003 a0003c0005t0003 a0003c0007t0001 a0003c0024t0010 a0004c0006t0003 a0005c0008t0002 a0006c0018t0003 a0007c0010t0002 a0008c0019t0003 a0009c0020t0005	a0001c0001t0002g0049 a0001c0001t0002g0150 a0001c0001t0002g0202 others(51): Show a0001c0001t0002g0049 a0001c0001t0002g0150 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0003g0142 a0001c0001t0003g0196 a0001c0001t0003g0214 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0084 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0201 a0001c0001t0005g0009 a0001c0001t0005g0133 a0001c0001t0007g0008 a0001c0004t0001g0007 a0001c0004t0004g0023 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0086 a0002c0002t0001g0141 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0003t0002g0121 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0003g0157 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0221 a0002c0003t0005g0146 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0014t0003g0124 a0003c0005t0003g0127 a0003c0005t0003g0156 a0003c0007t0001g0013 a0003c0024t0010g0236 a0004c0006t0003g0167 a0004c0006t0003g0172 a0005c0008t0002g0053 a0005c0008t0002g0155 a0005c0008t0002g0187 a0006c0018t0003g0018 a0007c0010t0002g0117 a0008c0019t0003g0215 a0009c0020t0005g0160	54	236	0.2288	-120	c.361 others(21): Show c.361+112452_361+112571del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525250	AGGACCCG others(113): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03669.hp1 others(2): Show HG03017.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0003g0027 a0001c0001t0004g0174 a0001c0004t0001g0070 others(2): Show a0001c0001t0003g0027 a0001c0001t0004g0174 a0001c0004t0001g0070 a0002c0002t0001g0096 a0002c0003t0001g0134	5	236	0.0212	-120	c.361 others(19): Show c.361+35312_361+35431del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110385435	CTGGATAG others(113): Show CTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGG ATAGGCCGTGGTTGCAGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(43): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00642.hp1 HG01257.hp2 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02615.hp1 HG03486.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp1 NA18953.hp1 NA18954.hp1 NA18963.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA19062.hp1 NA19065.hp1 NA19080.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0016 a0021	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0051 a0001c0084 a0001c0116 a0002c0007 a0002c0037 a0002c0050 a0003c0010 a0003c0103 a0004c0009 a0004c0012 a0005c0020 a0005c0027 a0005c0042 a0007c0026 a0016c0114 a0021c0082	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 a0001c0003t0003 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0011t0004 a0001c0014t0005 a0001c0051t0004 a0001c0084t0005 a0001c0116t0001 a0002c0007t0001 a0002c0037t0002 a0002c0050t0002 a0003c0010t0005 a0003c0103t0003 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0008 a0005c0020t0002 a0005c0020t0006 a0005c0027t0006 a0005c0027t0028 a0005c0042t0002 a0007c0026t0039 a0016c0114t0006 a0021c0082t0003	a0001c0001t0001g0153 a0001c0001t0002g0306 a0001c0001t0002g0338 others(43): Show a0001c0001t0001g0153 a0001c0001t0002g0306 a0001c0001t0002g0338 a0001c0001t0004g0280 a0001c0001t0004g0350 a0001c0001t0005g0107 a0001c0001t0005g0115 a0001c0002t0001g0180 a0001c0002t0003g0079 a0001c0002t0005g0100 a0001c0002t0006g0046 a0001c0002t0023g0305 a0001c0003t0001g0232 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0003g0088 a0001c0004t0002g0288 a0001c0004t0003g0048 a0001c0004t0004g0287 a0001c0005t0001g0102 a0001c0005t0001g0257 a0001c0005t0003g0071 a0001c0011t0004g0207 a0001c0014t0005g0240 a0001c0051t0004g0315 a0001c0084t0005g0361 a0001c0116t0001g0217 a0002c0007t0001g0228 a0002c0007t0001g0258 a0002c0007t0001g0294 a0002c0037t0002g0360 a0002c0050t0002g0317 a0003c0010t0005g0218 a0003c0103t0003g0082 a0004c0009t0002g0289 a0004c0009t0003g0055 a0004c0012t0001g0162 a0004c0012t0008g0009 a0005c0020t0002g0270 a0005c0020t0006g0073 a0005c0027t0006g0054 a0005c0027t0028g0239 a0005c0042t0002g0273 a0007c0026t0039g0096 a0016c0114t0006g0085 a0021c0082t0003g0138	46	372	0.1237	-120	c.180 others(19): Show c.180+27946_180+28065del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134849298	AGGAACCA others(113): Show AGGAACCACAATATCACACCTCCCAGGAACCACGATATCACACCTCCCAG GAACCACGATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGA AGCACGGGATCAGACCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	272	0.0037	-120	c.69 others(11): Show c.6996_*7115del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4456		chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134437	CAGGTTTA others(113): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0250 a0001c0006t0006g0250	1	372	0.0027	-120	c.49 others(11): Show c.4947_*5066del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4637		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134437	CAGGTTTA others(113): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0247 a0001c0007t0003g0247	1	364	0.0028	-120	c.18 others(11): Show c.1886_*2005del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1590		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62813162	GGAGCCCA others(113): Show GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGAC GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCAGCAGGACC TGCAGGGGACGAGCCAGCCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03492.hp1 HG00639.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0007 a0001c0002t0003g0007 a0001c0001t0003g0007 a0001c0002t0003g0007	2	412	0.0049	-120	c.-39 others(11): Show c.-3902_-3783del	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3887		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813193	AGCAGGAC others(113): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCG GAGACCCCAGGCCCCCGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG03491.hp1 HG00642.hp1 HG01257.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0003g0007 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0003g0007	3	412	0.0073	-120	c.-38 others(11): Show c.-3871_-3752del	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3856		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813271	CGAGCCAG others(113): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGAC CTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGC CCGGCAGGACCTACAAGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00609.hp1 others(47): Show HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01993.hp1 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18944.hp2 NA18957.hp1 NA18960.hp1 NA18966.hp2 NA18975.hp1 NA18982.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19060.hp1 NA19079.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0023 a0033 a0036	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0060 a0001c0066 a0002c0009 a0003c0007 a0003c0021 a0009c0076 a0023c0079 a0033c0061 a0036c0057	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0004t0005 a0001c0010t0002 a0001c0010t0004 a0001c0060t0001 a0001c0066t0001 a0002c0009t0001 a0003c0007t0001 a0003c0007t0005 a0003c0021t0002 a0003c0021t0004 a0009c0076t0001 a0023c0079t0005 a0033c0061t0001 a0036c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0132 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0264 a0001c0001t0006g0076 a0001c0002t0001g0223 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0265 a0001c0004t0005g0351 a0001c0010t0002g0136 a0001c0010t0002g0263 a0001c0010t0004g0163 a0001c0010t0004g0246 a0001c0010t0004g0267 a0001c0060t0001g0026 a0001c0066t0001g0060 a0002c0009t0001g0149 a0002c0009t0001g0151 a0003c0007t0001g0013 a0003c0007t0001g0081 a0003c0007t0001g0082 a0003c0007t0001g0084 a0003c0007t0001g0085 a0003c0007t0001g0087 a0003c0007t0001g0094 a0003c0007t0001g0095 a0003c0007t0005g0159 a0003c0021t0002g0096 a0003c0021t0004g0097 a0009c0076t0001g0080 a0023c0079t0005g0086 a0033c0061t0001g0002 a0036c0057t0001g0238	50	412	0.1214	-120	c.-37 others(11): Show c.-3793_-3674del	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3778		chr20	TogoVar
CPSF6_chr12_69234569_69279358	69236234	ATAGCATA others(113): Show ATAGCATATATATTATATATTAAAATATATGTAGCATATATATTATATAT TAAAATATATGTAGCATATATATTATATATTAAAATATATGTAGCATATA TATTATATATTAAAATATATA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(69): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02683.hp2 HG02717.hp1 HG03516.hp1 HG03831.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19006.hp2 NA19010.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0038 a0001c0002t0001 others(14): Show a0001c0001t0003 a0001c0001t0038 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0002t0026 a0001c0002t0041 a0001c0002t0076 a0001c0002t0080 a0001c0002t0082 a0001c0002t0084 a0001c0002t0087 a0001c0002t0088 a0001c0002t0091 a0001c0003t0038	a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0067 others(54): Show a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0078 a0001c0001t0038g0243 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0253 a0001c0002t0004g0002 a0001c0002t0004g0004 a0001c0002t0004g0035 a0001c0002t0004g0098 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0109 a0001c0002t0004g0142 a0001c0002t0004g0155 a0001c0002t0004g0224 a0001c0002t0006g0030 a0001c0002t0006g0116 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0161 a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0165 a0001c0002t0006g0166 a0001c0002t0006g0220 a0001c0002t0008g0084 a0001c0002t0025g0150 a0001c0002t0026g0119 a0001c0002t0026g0225 a0001c0002t0041g0004 a0001c0002t0041g0111 a0001c0002t0076g0152 a0001c0002t0080g0162 a0001c0002t0082g0002 a0001c0002t0084g0221 a0001c0002t0087g0096 a0001c0002t0088g0168 a0001c0002t0091g0125 a0001c0003t0038g0015	72	392	0.1837	-120	c.-34 others(11): Show c.-3412_-3293del	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3334		chr12	TogoVar
CSF2RA_chrX_1263814_1314935	1264232	AGCCTTTG others(113): Show AGCCTTTGACAAAAAGATCCACCGTGATGCCCAGTTCCAGCAGCCTGGCT GAGCCATCTGGTTGAGCTCTTGGGAAGATAAACTTCTCTACATCAATGTC AACAAGAAGATATGAGCCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	159	0.0063	-120	c.-47 others(11): Show c.-4737_-4618del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4581		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1252668	CAGTCACC others(113): Show CAGTCACCATGTCCTACTATAGATCCCTAGAACATATTCCTCCAATGTAA CTGAAATGTATCCCTTGACCAACATCACTGCCCGGCCCCAGCCCCAGGTA AACACCATTCTACCCTCTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	-120	c.-40 others(11): Show c.-4061_-3942del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3539		chr4	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(113): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	378	0.0027	-120	c.274 others(19): Show c.2747+3571_2747+3690del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYLC2_chr9_102990333_103023488	103014612	ATATGTAT others(113): Show ATATGTATATTATGCAGTATACATCATATGTATATTATGCAGTATACACC ATATGTATATTATGCAGTATACATATGTAATATACGTATGTATATTATGC AATATACATATGTAATATACG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG02976.hp1 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0034g0202 a0003c0003t0034g0203	2	448	0.0045	-120	c.81 others(19): Show c.817-2260_*817-2141del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP21A2_chr6_32033415_32046644	32043718	ACCTCTTG others(113): Show ACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGT GAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCAT AGCGAGCGCCTGGGATCAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	459	0.0022	-120	c.25 others(11): Show c.2585_*2704del	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding		2075		chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(113): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18963.hp2 HG03579.hp2 NA18963.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0112 a0001c0002t0001 a0004c0007t0112	a0001c0002t0001g0225 a0004c0007t0112g0212 a0001c0002t0001g0225 a0004c0007t0112g0212	2	386	0.0052	-120	c.199 others(17): Show c.199-2044_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931989	GGAATGAG others(113): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02257.hp1 HG02622.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0173 a0003c0003t0124 a0002c0001t0173 a0003c0003t0124	a0002c0001t0173g0375 a0003c0003t0124g0117 a0002c0001t0173g0375 a0003c0003t0124g0117	2	386	0.0052	-120	c.198 others(17): Show c.198+2102_198+2221del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932143	AGGAGAAG others(113): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0020 a0008c0030t0020	a0008c0030t0020g0287 a0008c0030t0020g0287	1	386	0.0026	-120	c.198 others(17): Show c.198+1948_198+2067del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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