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
SNED1_chr2_240993618_241100568	241052583	CAGGGGGC others(211): Show CAGGGGGCCAAGCAGGATATATGGGATACCAGTGCCAGGCAGGTGAGAGG GCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGCCAGGCAGGTGAGA GGGTCGGCGGGGGGGGGGGGGGTCAAGCAGGGTACATGGGATACCAGTGC CAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGATGCTGGT GTCAGGCAGGTAAGGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02738.hp1 NA19240.hp1 HG02280.hp1 HG02738.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0006 a0008c0033 a0001c0006 a0008c0033	a0001c0006t0001 a0008c0033t0016 a0008c0033t0030 a0001c0006t0001 a0008c0033t0016 a0008c0033t0030	a0001c0006t0001g0116 a0008c0033t0016g0221 a0008c0033t0030g0335 a0001c0006t0001g0116 a0008c0033t0016g0221 a0008c0033t0030g0335	3	342	0.0088	-218	c.208 others(17): Show c.2083+116_2083+333del	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SYNPR_chr3_63273308_63621924	63313850	TATATATA others(211): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18979.hp1 HG02080.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0237 a0001c0001t0006g0235 a0001c0001t0004g0237 a0001c0001t0006g0235	2	246	0.0081	-218	c.84+ others(17): Show c.84+35117_84+35334del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMCO3_chr13_113486021_113555229	113514427	AAGGAAGA others(211): Show AAGGAAGACATGAGCCTCGCTAGTATTCGGGGTGCAGGCTGATGGGACTG AGATCGACGCCATCCACACAAGCCTGCTGCCAAGCTTTGTTTTAGACCGA GTCTTGCAACAGGAAGACATGAGCCTCGCTAGTATTTGGGGTGCAGGCTG ATGGGACTGAGATCGACGCCATCCACACAAGCCTGCTGCCAAGCTTTGTT TTAGACCGAGTCTTGCAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1	a0003 a0006 a0010 others(1): Show a0003 a0006 a0010 a0013	a0003c0002 a0003c0016 a0003c0023 others(3): Show a0003c0002 a0003c0016 a0003c0023 a0006c0010 a0010c0015 a0013c0021	a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 others(3): Show a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 a0006c0010t0002 a0010c0015t0002 a0013c0021t0002	a0003c0002t0002g0005 a0003c0002t0002g0008 a0003c0002t0002g0010 others(63): Show a0003c0002t0002g0005 a0003c0002t0002g0008 a0003c0002t0002g0010 a0003c0002t0002g0011 a0003c0002t0002g0012 a0003c0002t0002g0013 a0003c0002t0002g0014 a0003c0002t0002g0015 a0003c0002t0002g0016 a0003c0002t0002g0030 a0003c0002t0002g0032 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0043 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0048 a0003c0002t0002g0049 a0003c0002t0002g0050 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0053 a0003c0002t0002g0054 a0003c0002t0002g0057 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0061 a0003c0002t0002g0062 a0003c0002t0002g0063 a0003c0002t0002g0064 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0069 a0003c0002t0002g0071 a0003c0002t0002g0072 a0003c0002t0002g0073 a0003c0002t0002g0075 a0003c0002t0002g0076 a0003c0002t0002g0077 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0083 a0003c0002t0002g0277 a0003c0002t0002g0278 a0003c0016t0002g0074 a0003c0023t0002g0031 a0006c0010t0002g0008 a0006c0010t0002g0055 a0010c0015t0002g0070 a0013c0021t0002g0056	77	366	0.2104	-218	c.122 others(19): Show c.1225+4072_1225+4289del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF16_chr8_144925358_144955880	144947070	GTACCCTA others(211): Show GTACCCTACTGTGGGCCATACCCTGCTGTGGGCCTGTGTCCTGCTGTGGG GCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTG TGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTGTGTCC TGCTGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCC TGTACCCTGCTGTGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0099 a0001c0008t0001g0099	1	401	0.0025	-218	c.-9- others(14): Show c.-9-1073_-9-856del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	TTATATAT others(210): Show TTATATATATGCACATATACACATTATATGTGTATATATATGCACATATA CACATTATATGTGTATATATATGCACATATACACATTATATGTGTATATA TATGCACATATACACATTATATGTGTATATATATGCACATATACACATTA TATGTGTATATATATGCACATATACACATTATATGTGTATATATATGCAC ATATACACATTATATGTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0052 a0001c0005t0052	a0001c0005t0052g0222 a0001c0005t0052g0222	1	40	0.0250	-217	c.118 others(19): Show c.1182-7345_1182-7129del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1239860	TCCCCTCT others(210): Show TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTC CCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0071 a0001c0003t0032g0071	1	103	0.0097	-217	c.136 others(19): Show c.1361+2054_1361+2270del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239892	CCCTCCCG others(210): Show CCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	80	0.0125	-217	c.136 others(19): Show c.1361+2022_1361+2238del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALDH16A1_chr19_49448225_49476050	49463237	GGGGGCCT others(210): Show GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGTGCTGGGGCCTGGATTCCTGGGTCTGAGGGAG GAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGT CCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGAGGCT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	339	0.0029	-217	c.109 others(17): Show c.1098+487_1099-396del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH1A3_chr15_100874831_100921626	100909280	ACATGTGT others(210): Show ACATGTGTGTGCAAACTCCTCAGTGTGTGAACCCACTGCAAACTCCTCCG TGTGTGTAAACCCACTGCAAACCCTCCACGTGTGCATGTAAACCCACTGC AAACCCCTTTGTGTGTGTGCAAACCCACTGGAAACCCCTCCACTGTGTGT GCAAACCCACTGCAAACCCCTCCACATGTGTGTGCAAACTCCTCAGTGTG TGAACCCACTGCAAACCC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01261.hp1 HG02083.hp1 others(2): Show HG01256.hp2 HG01261.hp1 HG02083.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0002g0115 a0001c0001t0003g0054 a0001c0001t0002g0042 a0001c0001t0002g0115 a0001c0001t0003g0054	5	412	0.0121	-217	c.146 others(18): Show c.1466+801_1466+1017del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANK2_chr4_113044653_113388736	113334516	ATAGAAAG others(210): Show ATAGAAAGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATAGATTA ATTAATCTATTACTAGAAAGTTAATAGATTAATTAATCTATTACTAGAAA GTTAATAGATTAATTAATCTATTACTAGAAGGTTAATAGATTAATTAATC TATTACTAGAAAGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATA GATTAATTAATCTATTAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01433.hp2 others(19): Show HG00609.hp2 HG00642.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG01975.hp2 HG02293.hp2 HG02451.hp1 HG02735.hp1 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18959.hp1 NA18960.hp1 NA18977.hp1 NA18981.hp2 NA18992.hp1 NA19086.hp2 NA20300.hp2	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0003 a0002c0027 a0002c0032 others(2): Show a0002c0003 a0002c0027 a0002c0032 a0005c0009 a0018c0029	a0002c0003t0001 a0002c0003t0007 a0002c0027t0008 others(3): Show a0002c0003t0001 a0002c0003t0007 a0002c0027t0008 a0002c0032t0001 a0005c0009t0001 a0018c0029t0001	a0002c0003t0001g0001 a0002c0003t0001g0048 a0002c0003t0001g0050 others(19): Show a0002c0003t0001g0001 a0002c0003t0001g0048 a0002c0003t0001g0050 a0002c0003t0001g0057 a0002c0003t0001g0060 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0080 a0002c0003t0001g0115 a0002c0003t0001g0138 a0002c0003t0001g0145 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0162 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0007g0137 a0002c0027t0008g0076 a0002c0032t0001g0135 a0005c0009t0001g0029 a0005c0009t0001g0128 a0018c0029t0001g0140	22	136	0.1618	-217	c.338 others(18): Show c.3380-1200_3380-984del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD33B_chr5_10559070_10662816	10638964	ACGGCGAT others(210): Show ACGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTG ACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGA TGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGA GTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGC GGGTGACGCGGCGTTGCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02647.hp1 others(4): Show HG02257.hp2 HG02258.hp2 HG02647.hp1 HG03471.hp2 HG03486.hp1 NA18966.hp2 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0014 a0003c0016 others(1): Show a0001c0006 a0001c0014 a0003c0016 a0003c0035	a0001c0006t0007 a0001c0014t0008 a0003c0016t0001 others(1): Show a0001c0006t0007 a0001c0014t0008 a0003c0016t0001 a0003c0035t0001	a0001c0006t0007g0191 a0001c0006t0007g0269 a0001c0014t0008g0018 others(4): Show a0001c0006t0007g0191 a0001c0006t0007g0269 a0001c0014t0008g0018 a0001c0014t0008g0125 a0003c0016t0001g0006 a0003c0016t0001g0010 a0003c0035t0001g0122	7	307	0.0228	-217	c.637 others(16): Show c.637+809_637+1025del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639048	CGGAGTTG others(210): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGG TGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGC GATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01981.hp1 HG00099.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0190 a0001c0004t0002g0205 a0001c0001t0001g0190 a0001c0004t0002g0205	2	322	0.0062	-217	c.637 others(16): Show c.637+933_637+1149del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639133	GGGTGACG others(210): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGT TGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0256 a0001c0004t0002g0256	1	317	0.0032	-217	c.637 others(17): Show c.637+1007_637+1223del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639203	TGGAGTTG others(210): Show TGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGC GATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	302	0.0033	-217	c.637 others(17): Show c.637+1038_637+1254del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639226	GGGTGACG others(210): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGT TGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	309	0.0032	-217	c.637 others(17): Show c.637+1066_637+1282del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639257	CGGTGACG others(210): Show CGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGT TGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	303	0.0033	-217	c.637 others(17): Show c.637+1097_637+1313del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639319	GGGTGACG others(210): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGT TGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0018 a0002c0010t0018	a0002c0010t0018g0306 a0002c0010t0018g0306	1	316	0.0032	-217	c.637 others(17): Show c.637+1162_637+1378del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639358	CGGAGTTG others(210): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGC GATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04199.hp1 HG01109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0054 a0001c0001t0001 a0001c0001t0054	a0001c0001t0001g0162 a0001c0001t0054g0033 a0001c0001t0001g0162 a0001c0001t0054g0033	2	313	0.0064	-217	c.637 others(17): Show c.637+1255_637+1471del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639854	CGGCGTTG others(210): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGTGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTT GCGCGGTGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGAGTTGCACGGT GATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0316 a0001c0001t0009g0316	1	297	0.0034	-217	c.637 others(17): Show c.637+1689_637+1905del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1849809	GTGGACAC others(210): Show GTGGACACAGGGCAAATGCTGAGGAGGGCTTGGGCGGCCACGTGGACACA GACAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGC AAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGC TGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG06807.hp1 HG02886.hp2 HG03041.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0144 a0003c0040 a0001c0001 a0001c0144 a0003c0040	a0001c0001t0010 a0001c0144t0052 a0003c0040t0055 a0001c0001t0010 a0001c0144t0052 a0003c0040t0055	a0001c0001t0010g0344 a0001c0144t0052g0339 a0003c0040t0055g0291 a0001c0001t0010g0344 a0001c0144t0052g0339 a0003c0040t0055g0291	3	358	0.0084	-217	c.37+ others(15): Show c.37+6383_37+6599del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112864944	TGCAGCTT others(210): Show TGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGTGCAG CCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAATAATTCAGC GTAGCACGTGCAGCTTCCCAGCGGGATCCATCACCACATGGGCAGTAATT CAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGT AATTCAGTGCAGGCCCGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(43): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02738.hp1 HG03492.hp1 HG03492.hp2 HG03942.hp2 HG04184.hp1 NA18944.hp2 NA18950.hp1 NA18973.hp2 NA18974.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0011 a0014	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0022 a0001c0042 a0002c0010 a0003c0007 a0003c0008 a0003c0012 a0010c0037 a0011c0041 a0014c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0054 a0001c0001t0056 a0001c0001t0068 a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0001c0011t0048 a0001c0011t0067 a0001c0022t0001 a0001c0042t0046 a0002c0010t0001 a0003c0007t0005 a0003c0007t0011 a0003c0008t0001 a0003c0008t0008 a0003c0012t0005 a0010c0037t0001 a0011c0041t0001 a0014c0036t0064	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 others(43): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0230 a0001c0001t0002g0050 a0001c0001t0002g0206 a0001c0001t0019g0018 a0001c0001t0019g0142 a0001c0001t0025g0171 a0001c0001t0027g0227 a0001c0001t0054g0176 a0001c0001t0056g0008 a0001c0001t0068g0098 a0001c0002t0001g0102 a0001c0006t0001g0070 a0001c0006t0001g0101 a0001c0006t0001g0129 a0001c0006t0001g0182 a0001c0006t0001g0184 a0001c0011t0001g0139 a0001c0011t0048g0011 a0001c0011t0067g0131 a0001c0022t0001g0196 a0001c0022t0001g0217 a0001c0042t0046g0148 a0002c0010t0001g0200 a0003c0007t0005g0177 a0003c0007t0011g0116 a0003c0007t0011g0175 a0003c0008t0001g0108 a0003c0008t0001g0170 a0003c0008t0008g0245 a0003c0012t0005g0188 a0003c0012t0005g0207 a0003c0012t0005g0235 a0003c0012t0005g0243 a0010c0037t0001g0076 a0011c0041t0001g0169 a0014c0036t0064g0204	46	252	0.1825	-217	c.299 others(19): Show c.2991+2378_2991+2594del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRAF_chr7_140714337_140929929	140908786	CTTTAGAT others(210): Show CTTTAGATGAACTCTAGGACTTGATTTCTGTCCTCTTCACCCCAATGGTC CACCAAAACCAAAGCCCAACTTGTACAGATTGGCAACTGCCTTTAGGGCA AAAGCTACTTCATCCACTTATTTATTTGGATTCTTGTTTATTCCTAGAAT TTGGCCTGGCAGCTCCCCACTATCTTTTCAGCTCTGCAACTGCTCTACGT TTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(18): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02738.hp1 HG03490.hp1 HG03654.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18943.hp2 NA18956.hp2 NA18959.hp1 NA18968.hp2 NA19001.hp1 NA19007.hp2 NA19043.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 others(18): Show a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0011g0153 a0001c0001t0011g0163 a0001c0001t0011g0176 a0001c0001t0025g0160 a0001c0001t0026g0162 a0001c0001t0031g0181 a0001c0001t0032g0180	21	188	0.1117	-217	c.138 others(19): Show c.138+15563_138+15779del	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140908786	CTTTAGAT others(210): Show CTTTAGATGAACTCTAGGACTTGATTTCTGTCCTCTTCACCCCAATGGTC CACCAAAACCAAAGCCCAACTTGTACAGATTGGCAACTGCCTTTAGGGCA AAAGCTACTTCATCCACTTATTTATTTGGATTCTTGTTTATTCCTAGAAT TTGGCCTGGCAGCTCCCCACTATCTTTTCAGCTCTGCAACTGCTCTACGT TTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(18): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp2 NA19001.hp1 NA19007.hp1 NA19043.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0001t0059	a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 others(18): Show a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0009g0177 a0001c0001t0034g0169 a0001c0001t0043g0164 a0001c0001t0044g0158 a0001c0001t0058g0185 a0001c0001t0059g0186	21	194	0.1082	-217	c.138 others(19): Show c.138+15563_138+15779del	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BSPH1_chr19_47963046_47997170	47991604	CCTCCCCC others(210): Show CCTCCCCCTCTTCCTCCTCTTCCCTCCTCCTCCTCCTTCCCCTCCTCCTC CGTCTGCTCCTCCTCCCCCTCCTCCTCTTCCTTCTCTTTCTCCCCTCCTC CTCTCCTCCTCCTTCTTCCTACTCTCCCTCATTCCCCTCCTTCTCTCCCT CCTCCTCTTCCTTCTTCACCTCCTCCCCCCTTCTCCCCCCTTTCCCTCTT TCTCCCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00609.hp1 others(57): Show HG00099.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01928.hp2 HG01993.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02896.hp1 HG03139.hp2 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19074.hp1 NA19075.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0006t0002	a0001c0001t0001g0021 a0001c0001t0001g0339 a0001c0001t0001g0340 others(55): Show a0001c0001t0001g0021 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0002g0022 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0385 a0001c0001t0004g0351 a0004c0006t0002g0364	60	441	0.1361	-217	c.73+ others(13): Show c.73+188_73+404del	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5			chr19	TogoVar
C7orf50_chr7_992006_1143247	1117596	GGCTTCCA others(210): Show GGCTTCCATCACCGACGCTCACGCAGGATGATGACATCACTACAGCTCTA CGGACCGGCTTCCATCACCGACGCCCATGCAGGATGACATCACTACAGCT CTACGGACCGGCTTCCATCACCAACGCCCACGCAGGATGATGACATCACT ATAGCTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGCATGACATCG CTACGGCTCTACCGACCA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0150 a0001c0001t0008g0150	1	323	0.0031	-217	c.129 others(17): Show c.129+9444_129+9660del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNG7_chr19_53904278_53948950	53923232	GTCTGGTC others(210): Show GTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCC CCAGGTCTGGTCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTT GCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTATTG GTGGAGTTGTCCCCAGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	362	0.0028	-217	c.424 others(17): Show c.424+7728_424+7944del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CANT1_chr17_78986716_79014764	79004895	GGAGGGGA others(210): Show GGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAG TTAGGGAGGGGGGAGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGG GAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGG GAGCTAGGGAGAGGGGGGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAG GGAGAGGGGGGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0216 a0001c0002t0006g0216	1	365	0.0027	-217	c.-14 others(19): Show c.-147+4552_-147+4768del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CBLC_chr19_44772890_44805652	44778482	CCCCAGCC others(210): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAACTCAGGCCCCCACCCCCTCC TCCCTCAGACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCTCAGACCCAG GGGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAACTCAGGCCCCC ACCCCCTCCTCCCTCAGACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCT CAGACCCAGGGGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	342	0.0029	-217	c.353 others(15): Show c.353+202_353+418del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP46_chr10_132803392_132947570	132820647	GTGAGTGC others(210): Show GTGAGTGCTGATGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGCTG ATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGCACTGATGTGTGC TGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGCGTGCTGTGTGAGCA CTGATGTGTGCTGTGTGTGCTGATGTGTGCTGAGTGCTGATGTGTGCTGT GTGTGCGCTGATGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01261.hp1 NA19004.hp2 HG00544.hp2 HG01261.hp1 NA19004.hp2	a0009 a0019 a0009 a0019	a0009c0043 a0019c0027 a0009c0043 a0019c0027	a0009c0043t0001 a0019c0027t0002 a0009c0043t0001 a0019c0027t0002	a0009c0043t0001g0209 a0019c0027t0002g0026 a0019c0027t0002g0078 a0009c0043t0001g0209 a0019c0027t0002g0026 a0019c0027t0002g0078	3	244	0.0123	-217	c.711 others(19): Show c.7118-5950_7118-5734del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1980047	ACGCAGTG others(210): Show ACGCAGTGGGCACCCTCTTACCGCGTGGGGAGGACGGGTGAACGAGAGTG TATCTAAGCCACCGGCACAGATCGCAGTGGGCGCCCTCTTACCGCGTGGG GAGGACGGGTGAACGAGAGACTGTATCTAAGCCACCGGCACAGATCGCAG TGGGCGCCCTCTTACCGCGTGGGGAGGACGGGTGAACGAGAGACTGTATC TAAGCCACCGGCACAGAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0001 a0023c0040t0001	a0023c0040t0001g0134 a0023c0040t0001g0134	1	276	0.0036	-217	c.500 others(17): Show c.500+5122_500+5338del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1980058	ACCCTCTT others(210): Show ACCCTCTTACCGCGTGGGGAGGACGGGTGAACGAGAGTGTATCTAAGCCA CCGGCACAGATCGCAGTGGGCGCCCTCTTACCGCGTGGGGAGGACGGGTG AACGAGAGACTGTATCTAAGCCACCGGCACAGATCGCAGTGGGCGCCCTC TTACCGCGTGGGGAGGACGGGTGAACGAGAGACTGTATCTAAGCCACCGG CACAGATCGCAGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(72): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18973.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19064.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0007 a0008 a0012 a0014 a0018 a0020 a0022 a0028 a0037	a0001c0003 a0001c0010 a0001c0017 others(26): Show a0001c0003 a0001c0010 a0001c0017 a0001c0030 a0001c0031 a0001c0064 a0001c0065 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0002c0006 a0003c0004 a0003c0047 a0005c0016 a0007c0019 a0008c0073 a0012c0061 a0014c0041 a0014c0042 a0014c0043 a0018c0063 a0018c0066 a0020c0028 a0022c0058 a0028c0060 a0037c0062	a0001c0003t0001 a0001c0010t0001 a0001c0010t0007 others(27): Show a0001c0003t0001 a0001c0010t0001 a0001c0010t0007 a0001c0017t0002 a0001c0030t0001 a0001c0031t0001 a0001c0064t0001 a0001c0065t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0002c0006t0001 a0003c0004t0002 a0003c0047t0009 a0005c0016t0001 a0007c0019t0001 a0008c0073t0001 a0012c0061t0002 a0014c0041t0001 a0014c0042t0001 a0014c0043t0002 a0018c0063t0001 a0018c0066t0001 a0020c0028t0002 a0022c0058t0001 a0028c0060t0001 a0037c0062t0001	a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 others(72): Show a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0116 a0001c0003t0001g0166 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0203 a0001c0003t0001g0210 a0001c0003t0001g0220 a0001c0003t0001g0234 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0010t0001g0014 a0001c0010t0001g0221 a0001c0010t0001g0236 a0001c0010t0001g0261 a0001c0010t0007g0015 a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 a0001c0017t0002g0225 a0001c0030t0001g0045 a0001c0030t0001g0154 a0001c0031t0001g0008 a0001c0064t0001g0055 a0001c0065t0001g0252 a0001c0067t0001g0258 a0001c0068t0001g0235 a0001c0069t0001g0071 a0001c0070t0001g0093 a0001c0071t0001g0077 a0001c0072t0001g0062 a0002c0006t0001g0020 a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 a0002c0006t0001g0115 a0002c0006t0001g0160 a0002c0006t0001g0188 a0002c0006t0001g0242 a0002c0006t0001g0249 a0003c0004t0002g0058 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0226 a0003c0004t0002g0244 a0003c0004t0002g0257 a0003c0004t0002g0259 a0003c0004t0002g0265 a0003c0047t0009g0270 a0005c0016t0001g0005 a0005c0016t0001g0155 a0005c0016t0001g0214 a0005c0016t0001g0232 a0007c0019t0001g0111 a0007c0019t0001g0122 a0007c0019t0001g0125 a0008c0073t0001g0241 a0012c0061t0002g0198 a0014c0041t0001g0139 a0014c0042t0001g0271 a0014c0043t0002g0274 a0018c0063t0001g0002 a0018c0066t0001g0218 a0020c0028t0002g0056 a0020c0028t0002g0248 a0022c0058t0001g0222 a0028c0060t0001g0021 a0037c0062t0001g0245	75	276	0.2717	-217	c.500 others(17): Show c.500+5111_500+5327del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146721376	CATTCTAT others(210): Show CATTCTATATACATTCTATATACATTCTATATATATTCTATATATACATT CTATATATATTCTATATATACATTCTATATACATTTTATATACATTCTAT ATATATTCTATATACATTCTATATATATTCTATATATACATTCTATATAT ATTCTATATACATTCTATATATATTCTATATACATTCTATATATATTCTA TATACATTCTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	40	0.0250	-217	c.98- others(17): Show c.98-52873_98-52657del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(210): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAAT CAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTATCTTGAT TTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATT TTGTATCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG03704.hp1 others(2): Show HG00280.hp2 HG01175.hp2 HG03704.hp1 NA19086.hp2 NA19090.hp2	a0004 a0034 a0004 a0034	a0004c0004 a0034c0027 a0004c0004 a0034c0027	a0004c0004t0005 a0034c0027t0005 a0004c0004t0005 a0034c0027t0005	a0004c0004t0005g0030 a0004c0004t0005g0031 a0004c0004t0005g0032 others(2): Show a0004c0004t0005g0030 a0004c0004t0005g0031 a0004c0004t0005g0032 a0004c0004t0005g0034 a0034c0027t0005g0033	5	23	0.2174	-217	c.85+ others(16): Show c.85+9963_85+10179del	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
COL18A1_chr21_45400165_45518720	45501851	AGAAGGAC others(210): Show AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG GGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTC CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC CGGTCACCTCCCTCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG02683.hp1 others(4): Show HG00733.hp1 HG00738.hp2 HG02683.hp1 HG03486.hp2 NA18522.hp1 NA18964.hp2 NA20905.hp2	a0001 a0013 a0026 a0001 a0013 a0026	a0001c0002 a0001c0009 a0001c0010 others(4): Show a0001c0002 a0001c0009 a0001c0010 a0001c0015 a0001c0017 a0013c0085 a0026c0056	a0001c0002t0002 a0001c0009t0001 a0001c0010t0002 others(4): Show a0001c0002t0002 a0001c0009t0001 a0001c0010t0002 a0001c0015t0001 a0001c0017t0002 a0013c0085t0002 a0026c0056t0001	a0001c0002t0002g0120 a0001c0009t0001g0127 a0001c0010t0002g0046 others(4): Show a0001c0002t0002g0120 a0001c0009t0001g0127 a0001c0010t0002g0046 a0001c0015t0001g0172 a0001c0017t0002g0158 a0013c0085t0002g0005 a0026c0056t0001g0091	7	289	0.0242	-217	c.268 others(19): Show c.2684-2141_2684-1925del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587974	CCCCCGTG others(210): Show CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0224 a0001c0002t0004g0224	1	345	0.0029	-217	c.928 others(15): Show c.928-696_928-480del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB5_chr7_28407518_28830894	28557024	GGGATACT others(210): Show GGGATACTAACAGCTCCCTGCTGAAACTGGCCCCAGGGCTTTCCTACAAT CTGTTCCCACCTTTGCAAAAAGTCTCTTTATTAAATGCTCCTCACATTAC CCAGTTTGAAGGTACTAGCTGTTTCCTACTGGGATCCCAGATGTTAAAGT AGTCAAACTCTCTAATTGAAATTGTGCTTTTATATGCAGTCTTCTCAGAC TAAAGCATCACCTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp2 HG02280.hp1 others(5): Show HG01433.hp2 HG01884.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG03195.hp1 HG04115.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0053	a0001c0001t0001g0109 a0001c0001t0002g0094 a0001c0001t0003g0057 others(5): Show a0001c0001t0001g0109 a0001c0001t0002g0094 a0001c0001t0003g0057 a0001c0001t0003g0189 a0001c0001t0004g0149 a0001c0001t0005g0026 a0001c0001t0013g0093 a0001c0001t0053g0030	8	196	0.0408	-217	c.292 others(19): Show c.292-13340_292-13124del	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10			chr7	TogoVar
DHX37_chr12_124941826_124994131	124976745	GCGTGAAC others(210): Show GCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTAC ACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAAT AAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAA AAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAG GCTGAGGCAGGAGAATCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp2 others(2): Show HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01516.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0002 a0003c0012t0001 a0001c0002t0002 a0003c0012t0001	a0001c0002t0002g0273 a0001c0002t0002g0274 a0003c0012t0001g0171 others(2): Show a0001c0002t0002g0273 a0001c0002t0002g0274 a0003c0012t0001g0171 a0003c0012t0001g0269 a0003c0012t0001g0275	5	368	0.0136	-217	c.887 others(15): Show c.887+380_887+596del	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	5/26			chr12	TogoVar
DLGAP2_chr8_732628_1713476	1641969	CCCCGCCG others(210): Show CCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCTGGTCCTCACCTG TGTCACCCTCGACCCTGCCGGCCCCCACCTGTGTCACCCTCGACCCCGCC GGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCACC CTCGACCCTGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCCC ACCTGTGTCACCCTCCAA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	28	0.0357	-217	c.181 others(19): Show c.1810+8935_1810+9151del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642878	TCCTCACC others(210): Show TCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCT CGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCC GCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	23	0.0435	-217	c.181 others(20): Show c.1810+9852_1810+10068del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642898	GACCCCCC others(210): Show GACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACC TGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCG CCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCA CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	35	0.0286	-217	c.181 others(20): Show c.1810+9854_1810+10070del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643549	GACCCCGC others(210): Show GACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACC TGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCG CCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCA CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	36	0.0278	-217	c.181 others(21): Show c.1810+10505_1810+10721del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	140741	CTGGTGAG others(210): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATAGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGA GGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0024 a0001c0002t0023 a0001c0002t0024	a0001c0002t0023g0282 a0001c0002t0024g0283 a0001c0002t0023g0282 a0001c0002t0024g0283	2	338	0.0059	-217	c.64 others(11): Show c.6483_*6699del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		2047		chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	47991604	CCTCCCCC others(210): Show CCTCCCCCTCTTCCTCCTCTTCCCTCCTCCTCCTCCTTCCCCTCCTCCTC CGTCTGCTCCTCCTCCCCCTCCTCCTCTTCCTTCTCTTTCTCCCCTCCTC CTCTCCTCCTCCTTCTTCCTACTCTCCCTCATTCCCCTCCTTCTCTCCCT CCTCCTCTTCCTTCTTCACCTCCTCCCCCCTTCTCCCCCCTTTCCCTCTT TCTCCCCTCCTCCTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00609.hp2 others(50): Show HG00099.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01928.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02293.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp1 HG03139.hp2 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18959.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0011	a0001c0001 a0001c0022 a0002c0002 others(4): Show a0001c0001 a0001c0022 a0002c0002 a0003c0003 a0004c0004 a0010c0011 a0011c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0022t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0004c0004t0001 a0010c0011t0001 a0011c0012t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(50): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0005g0068 a0001c0001t0008g0070 a0001c0022t0001g0098 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0084 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0003g0099 a0003c0003t0001g0081 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0088 a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0059 a0004c0004t0001g0065 a0004c0004t0001g0073 a0004c0004t0001g0078 a0004c0004t0001g0095 a0004c0004t0001g0096 a0010c0011t0001g0252 a0011c0012t0001g0016	53	386	0.1373	-217	c.-32 others(11): Show c.-3224_-3008del	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3027		chr19	TogoVar
ERICH1_chr8_659200_736224	675843	GTGAGGAC others(210): Show GTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp2 others(65): Show HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18980.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0008 others(1): Show a0001c0001 a0001c0002 a0006c0008 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0006c0008t0001 a0009c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0002g0253 a0001c0001t0002g0292 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0363 a0001c0001t0002g0366 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0002g0269 a0001c0002t0002g0331 a0006c0008t0001g0169 a0009c0010t0002g0357	68	374	0.1818	-217	c.305 others(17): Show c.305-2013_305-1797del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675918	GCCCCTCG others(210): Show GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGC GGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0175 a0006c0008t0001g0175	1	373	0.0027	-217	c.305 others(17): Show c.305-2088_305-1872del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC4_chr7_133248078_134070761	133857108	ATATGTGT others(210): Show ATATGTGTATATATATATGTATATATATATACACATACACGTATATATAT ATATATATATATATATATATATATATATATATATATATATATATTTTACC TCTACTTAACCTCCCTGGATGATTGTCTTAGTGTCACATATATATATATA TATATATATATATATACACGTATATATATATATATATATACACGTATATA TATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	100	0.0100	-217	c.173 others(21): Show c.1735-38487_1735-38271del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM20B_chr1_179020894_179081567	179040494	CCCCCCAC others(210): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCTACCTCCCTCCAGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	406	0.0025	-217	c.-13 others(19): Show c.-133-3215_-133-2999del	FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805789	CCCCTCAG others(210): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02027.hp1 HG01952.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0186 a0001c0001t0001g0207	2	298	0.0067	-217	c.16 others(11): Show c.1624_*1840del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1503		chr2	TogoVar
IQCA1_chr2_236319151_236512476	236381261	ACAGCTCC others(210): Show ACAGCTCCCAGAACTATGAGCTATTAATTTCTGTTGTTTATAAATTACTC AGCCTAAGAACGTTGTTATAGCAGTCCAAACAGACTAAGGCAGTCCCAAT CGCCTTTCACAGCTCCCAGAACTATGAGCTATTAATTTCTGTTGTTTATA AATTACTCAGCCTAAGAACGTTGTTATAGCAGTCCAAACAGACTAAGGCA GTACCCAATCGCCTTTCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	206	0.0049	-217	c.141 others(17): Show c.1414-845_1414-629del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	11/18			chr2	TogoVar
ITGB1_chr10_32895318_32963230	32900490	TGACTAGT others(210): Show TGACTAGTGTGAAACAAGATGGGCAACTCAAATGGTGAGAAGTAAACATA CAGTGGTCTGTTATGGCACTAACTCAAAGTAAGACTCGCGTAGGTGAGAG CTGTTGCATAGCCACAGTATAACTTCACATGTTCATTAAAAAGGCAAATT GACCGCTAAAACTTCAAAGAAAAAGTACTCATAAAAAAAGTCTTACCCCA AAATTGCAAACAAATACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0296 a0001c0002t0010g0296	1	422	0.0024	-217	c.86 others(10): Show c.863_*1079del	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	16/16	863		chr10	TogoVar

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