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
RNF213_chr17_80255852_80403794	80355360	ACGGGAAT others(436): Show ACGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGG CTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAAG AGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGG AATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTA TGGAGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAGTGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGA ATGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTAC AGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCACGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTCATGGAGGAAAAAGCGGGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0102 a0002c0027t0001g0102	1	286	0.0035	-443	c.108 others(20): Show c.10862+795_10862+1237del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNTG2_chr2_945849_1372613	1354237	GGCTGGAG others(436): Show GGCTGGAGCTCAGGGACTGGGTGTTCCGTGGCAGAGCGGCTGCCTGAGTT CCCTGAGCCTCATCTGTAAAGTGGATACGTTTCCATGGGGGAAGTGGAAG ACCCCGGGCTGGAGCTCAGGGACTGGGTGTTCCGTGGCAGAGCGGCTGCC TGAGTTCCCTGAGCCTCATCTGTAAAGTGGATACGTTTCCATGGGGGAAG TGGAAGAACGCCGGGCTGGAGCTCAGGGACTGGGTGTTCCGTGGCAGAGC GGCTGCCTGAGTTCCCTGAGCCTCCGCTTTCTCATCTGTAAAGTGGGTAC GTTTCCATGGGGGAAGTGGAAGACCCCGCGCTGGAGCTCAGGGACTGGCT GTTCCGAGGCAGAGCGGCTGCCTGAGTTCCCTGAGCCTCCGCTTTCTCAT CTGTAAAGTGGGTACGTTTCCATGGGGGAAGTGGAAGACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0014 a0017 a0019 a0020 a0021	a0001c0001 a0001c0002 a0002c0003 others(24): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0008 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0008c0031 a0009c0012 a0010c0013 a0013c0018 a0014c0032 a0017c0036 a0019c0030 a0020c0021 a0021c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0004c0004t0002 a0004c0014t0001 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0008c0031t0001 a0009c0012t0001 a0010c0013t0001 a0013c0018t0001 a0014c0032t0001 a0017c0036t0001 a0019c0030t0001 a0020c0021t0001 a0021c0027t0001	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 others(134): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0128 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0041 a0001c0002t0001g0092 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0004g0051 a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0108 a0002c0003t0001g0122 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0013 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0107 a0002c0005t0001g0121 a0002c0005t0001g0156 a0002c0005t0001g0164 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0019 a0003c0007t0001g0060 a0003c0007t0001g0080 a0003c0007t0001g0184 a0003c0008t0001g0011 a0003c0008t0001g0044 a0003c0008t0001g0059 a0003c0008t0001g0096 a0003c0008t0001g0105 a0003c0008t0001g0132 a0003c0008t0001g0190 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0112 a0004c0004t0001g0124 a0004c0004t0001g0142 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0004c0014t0001g0036 a0004c0014t0001g0054 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0001g0176 a0005c0006t0001g0189 a0005c0006t0002g0003 a0005c0015t0001g0037 a0005c0015t0001g0103 a0005c0015t0001g0153 a0006c0009t0001g0048 a0006c0009t0001g0093 a0006c0009t0001g0162 a0006c0010t0001g0033 a0006c0010t0001g0043 a0006c0010t0001g0165 a0006c0028t0001g0127 a0007c0016t0001g0005 a0007c0016t0001g0032 a0007c0017t0001g0125 a0007c0024t0002g0073 a0008c0011t0001g0004 a0008c0011t0001g0135 a0008c0011t0001g0182 a0008c0011t0001g0188 a0008c0031t0001g0117 a0009c0012t0001g0091 a0009c0012t0001g0146 a0009c0012t0001g0163 a0010c0013t0001g0042 a0010c0013t0001g0166 a0013c0018t0001g0045 a0013c0018t0001g0046 a0014c0032t0001g0062 a0017c0036t0001g0070 a0019c0030t0001g0160 a0020c0021t0001g0119 a0021c0027t0001g0136	137	188	0.7287	-443	c.148 others(21): Show c.1489-13086_1489-12644del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNK2_chr3_195858364_195913551	195874846	CCCCTCGG others(436): Show CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCC CACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGC ACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGG CACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAG AAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCT CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACACGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	368	0.0027	-443	c.125 others(19): Show c.1257-2819_1257-2377del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235757	GGGCCCCC others(435): Show GGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCC CACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACAT CTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATG GCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCT TGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGT CACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTG CATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATG GTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCT GAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0067 a0003c0006t0067	a0003c0006t0067g0080 a0003c0006t0067g0080	1	86	0.0116	-442	c.136 others(19): Show c.1362-2354_1362-1913del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1889495	CTGTGAGG others(435): Show CTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTA GGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGG AGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGT GAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGG GTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACA TTGAGTGGGATGAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTG AGCAGACACTTCATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTG AGGTTTGTGAGGAGACACTGAGTGTGGTGAGGGTTTGTGAGGAGACACTG CATGGGGTGAACTTTGTTAGGAGGCAGTGAGTGGGGCGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG03540.hp1 others(3): Show HG00597.hp1 HG00673.hp2 HG03540.hp1 NA18962.hp2 NA19002.hp1 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0001c0020 a0001c0021 others(2): Show a0001c0004 a0001c0020 a0001c0021 a0001c0050 a0006c0134	a0001c0004t0002 a0001c0020t0009 a0001c0020t0016 others(3): Show a0001c0004t0002 a0001c0020t0009 a0001c0020t0016 a0001c0021t0004 a0001c0050t0005 a0006c0134t0004	a0001c0004t0002g0228 a0001c0020t0009g0316 a0001c0020t0016g0308 others(3): Show a0001c0004t0002g0228 a0001c0020t0009g0316 a0001c0020t0016g0308 a0001c0021t0004g0312 a0001c0050t0005g0170 a0006c0134t0004g0313	6	185	0.0324	-442	c.118 others(19): Show c.1182+3811_1183-3610del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147221	TCCCTCAC others(435): Show TCCCTCACCTCCGACCCTGCCGTCCGTCCCCCACCCCAGCCTCCGACCCT GCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTCCCTCACCT CCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCC GCCAGCCCTCACCCCCGCCTCCGACCCTGCCATCCGTCCCTCACCTCCGC CTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCCG TCCCTCACCTCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCC GGCCCTGACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCC TCACCTCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCGCCTCCGACC CTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCCAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	146	0.0068	-442	c.276 others(18): Show c.2762-1394_2762-953del	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
CACNG4_chr17_66959707_67038398	67017091	TTTTGAGA others(435): Show TTTTGAGACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGTG GTCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATCCTCCCAC CTCAGCCTCCCGAGTAGCTGGGATTACAAGTGCACCCCACCACATTCAGC TAATTTTTGTACTTTTAGGAGAAATGGGGTTTCACCATATTGCCCAGGCT GGTCTCGAACTCCTGGGCTTAAGCGATCCGCCCTCCTCAGCCTCCCAAAG TGGTGGGATTACAGGCGTGAGCCACTGCATCCGGCCATAACTATGGTTTA AGAGAGGGAAAGACACAGACAGACAGACTTCAACCCCACCCTTGCCTTCA CATGTCTTGCTTCTCTGCCTGGAAAGCCCCCTGTGCCCCATTCCCAGTGG GCAAATTCGTTGTTGTTGTTGTTGTTGTTGTTGTTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	350	0.0029	-442	c.221 others(16): Show c.221-1087_221-646del	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44227064	GGGGTCAT others(435): Show GGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGG ACAGAGGGAGTGTGGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTG CAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAG GGGGATGTGGGGGACAGAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGA CAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTGGGGGACAGAGGAGAGTA TGGGGGACAGAGGGGGTGTGGGGGACAGAAGGGGGTGTGGAAGACAGGAG GTGTGGGGGACAGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACA GAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGG GGACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	197	0.0051	-442	c.146 others(17): Show c.1469-862_1469-421del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CRNKL1_chr20_20029368_20057466	20032015	GACACTCA others(435): Show GACACTCAACAGAAGTATTCACAGGAGCATCGTTTGTATAGTAAAAGCCA GAAACGTATCAACAGGACCGTGAATGACTTGTGCACAAGCCCAGCCACTC TTGAAGCTGACTCTTACAATGTTAGTCGACTGAGAGAAGCAAAAGACAAA AGAATATATGATTCCATGTATATAAACTTCATAAACAGGAGAAACTGTAA TAGGTGGTGAATTTGTAGAACAAATGCCTTGAGTTTATCTTTTAAGAAAA CGTGTTGCTTTTGAAATACTAGCATGCAAACATAAAGTCATGTTCTTACA CTGCAAAGTAATTGTCATAAATCCTAAGTAATACAAATTTCTATTACCAT GTAATCAGCTACAAGGTCCTATTACTACCATTCTGAGTAGTAGTCAAAGC AAGGTAAAAACACGTTTTAAAAAAAATATGTATCTATTACTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0036 a0001c0001t0016g0036	2	426	0.0047	-442	c.37 others(11): Show c.3738_*4179del	CRNKL1	ENSG00000101343.15	transcript	ENST00000536226.2	protein_coding		2352		chr20	TogoVar
CSMD1_chr8_2930361_4999914	3795601	ATATCTAT others(435): Show ATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATAT ATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATAT ATATCTATCAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATAC CTATCATGTACAGCTATAGATACCTATCATGTACAGATATAGATATATAC CTATCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATAT ATATCTATCATGTACAGATATAGATATATATCTATCATGTACAGATATAT ATATCATGTACAGATATAGATATCTATCATGTACAGATATAGATATCTAT CATGTACAGATATAGATATCTATCATGTACAGATATAGATATATATCTAT CATGTATATAGATATATATCATGTATAGATATAGATATATATC	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0005 a0001c0102t0005	a0001c0102t0005g0034 a0001c0102t0005g0034	1	126	0.0079	-442	c.819 others(19): Show c.819-42001_819-41560del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DPH7_chr9_137549444_137583925	137566784	TCTGTCTG others(435): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	332	0.0030	-442	c.641 others(17): Show c.641-2072_641-1631del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(435): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	119	0.0084	-442	c.743 others(17): Show c.743-2667_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(435): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG03209.hp1 NA19063.hp1 others(1): Show HG00438.hp1 HG03209.hp1 NA19063.hp1 NA19089.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0002 a0002c0002t0001 a0006c0006t0001 a0001c0001t0002 a0002c0002t0001 a0006c0006t0001	a0001c0001t0002g0050 a0002c0002t0001g0009 a0002c0002t0001g0095 others(1): Show a0001c0001t0002g0050 a0002c0002t0001g0009 a0002c0002t0001g0095 a0006c0006t0001g0003	4	290	0.0138	-442	c.13 others(11): Show c.1395_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1274		chr2	TogoVar
MGAM_chr7_141990879_142111747	142042979	ATATATTA others(435): Show ATATATTATATATACATATAATATCTAAATATAATATATATAAAATATAA ACATAATATCTAAATATAATATCTATATTATATATACATATAATATCTAA ATATAATATATATATTATATATACATATAATATCTAAATATAATATATAT ATTATATATACATATAATATCTAAATATAATATCTATATTATATATACAT ATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAAT ATAATATATATATTATATATACATATAATATCTAAATATAATATATATAT TATATATACATATAATATCTAAATATAATATATATATTATATATACATAT AATATCTAAATATAATATCTATATTATATATACATATAATATCTAAATAT AATATCTATATTATATATACATATAATATCTAAATATAATATC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0045 a0001c0011t0003g0045	1	307	0.0033	-442	c.249 others(19): Show c.2498+2175_2498+2616del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MPLKIP_chr7_40121027_40139622	40131108	CACATGAG others(435): Show CACATGAGAAAATTGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACT TGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAAT CTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAA CAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTT ACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCT TCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAAC ACCTGATTTTGGCCGGGCATGGTGGCTCACGCCTGTAAACTCAGCACTGT GGGAGGCTGAGATGGGTGGATCATTTGAGATCATGAGTTCGAGACCAGCC TGGTCAACATGGTGAAACTAAAAATACTAAAAATACTAAAAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA21309.hp1 HG02895.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0075 a0001c0001t0033 a0001c0001t0075	a0001c0001t0033g0034 a0001c0001t0075g0070 a0001c0001t0033g0034 a0001c0001t0075g0070	3	388	0.0077	-442	c.15 others(11): Show c.1509_*1950del	MPLKIP	ENSG00000168303.9	transcript	ENST00000306984.8	protein_coding	2/2	1509		chr7	TogoVar
NAA20_chr20_20012362_20038655	20032015	GACACTCA others(435): Show GACACTCAACAGAAGTATTCACAGGAGCATCGTTTGTATAGTAAAAGCCA GAAACGTATCAACAGGACCGTGAATGACTTGTGCACAAGCCCAGCCACTC TTGAAGCTGACTCTTACAATGTTAGTCGACTGAGAGAAGCAAAAGACAAA AGAATATATGATTCCATGTATATAAACTTCATAAACAGGAGAAACTGTAA TAGGTGGTGAATTTGTAGAACAAATGCCTTGAGTTTATCTTTTAAGAAAA CGTGTTGCTTTTGAAATACTAGCATGCAAACATAAAGTCATGTTCTTACA CTGCAAAGTAATTGTCATAAATCCTAAGTAATACAAATTTCTATTACCAT GTAATCAGCTACAAGGTCCTATTACTACCATTCTGAGTAGTAGTCAAAGC AAGGTAAAAACACGTTTTAAAAAAAATATGTATCTATTACTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	436	0.0046	-442	c.306 others(14): Show c.306-492_306-51del	NAA20	ENSG00000173418.12	transcript	ENST00000334982.9	protein_coding	4/5			chr20	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(435): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18951.hp1 NA19067.hp1 others(1): Show HG00438.hp1 NA18951.hp1 NA19067.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0002t0001g0065	4	300	0.0133	-442	c.-37 others(11): Show c.-3717_-3276del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3632		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511066	TATATATG others(435): Show TATATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATACATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACACAT ATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG01109.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0010 a0002c0005t0093 a0001c0004t0010 a0002c0005t0093	a0001c0004t0010g0210 a0002c0005t0093g0003 a0001c0004t0010g0210 a0002c0005t0093g0003	2	241	0.0083	-442	c.894 others(17): Show c.894-7690_894-7249del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(435): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02155.hp2 HG02818.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0014	a0001c0001t0004 a0001c0001t0007 a0001c0001t0043 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0043 a0001c0002t0034 a0001c0004t0010 a0001c0004t0048 a0002c0005t0017 a0002c0005t0020 a0002c0014t0073	a0001c0001t0004g0051 a0001c0001t0007g0140 a0001c0001t0043g0241 others(7): Show a0001c0001t0004g0051 a0001c0001t0007g0140 a0001c0001t0043g0241 a0001c0002t0034g0104 a0001c0004t0010g0027 a0001c0004t0048g0070 a0002c0005t0017g0238 a0002c0005t0020g0080 a0002c0005t0020g0082 a0002c0014t0073g0028	10	202	0.0495	-442	c.894 others(17): Show c.894-7719_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
TMEM132D_chr12_129066726_129909025	129190097	TTGCAGAT others(435): Show TTGCAGATGGAGGGAGGGGTCTTGGGGGCCTGCAGATGGAGGGAGGGGGT CTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGA GGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATG GAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCAGGCCTGC AGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGGGGTCTTGGGGG CCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGT CTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGG GAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGA GGGAGGGGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG01884.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0009 a0001c0001t0003 a0002c0003t0009	a0001c0001t0003g0026 a0002c0003t0009g0054 a0001c0001t0003g0026 a0002c0003t0009g0054	2	41	0.0488	-442	c.144 others(21): Show c.1443+18981_1443+19422del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TRPM7_chr15_50552158_50691797	50629156	GATATATA others(435): Show GATATATACTTTAAGGTTTTTGATATACTCCAAAATACTTCAGATTGCTT CTACCATCCACCATGGGAGGGGTATAACCATAACCATTTCTCCATGTGCC ATGGAGAGGGGAGTTTCCTTCTTCTTCTCTTTTCTGAGACCGAGTCTCTC CCTGTTGTCCAGGCTGGAGTGCAGTGGCGTGGTCTTGGTTCACTGCAACC TCTGCCTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCTCAAGTAGCT GGGACCACTGGTGTATGGCACCACACCAGGCTAAGTTTTGTATTTTTTGT AGAGATAGGGTTTTGCCAAATTGCCCAGACTGATCTCAAACTCCTGGGCT CAAGCAATCTGCTTGCCTCAGCCTCCCAAAATTTATTACTGTAACATTGG CCATCCTTCCATATTTTCTCTAAGCATTTGGATTCCTCTACTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG01192.hp1 others(17): Show HG00609.hp2 HG01167.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG02083.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03688.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0024 a0001c0004t0025 others(5): Show a0001c0004t0010 a0001c0004t0024 a0001c0004t0025 a0001c0004t0035 a0001c0004t0083 a0001c0004t0085 a0001c0004t0086 a0001c0004t0087	a0001c0004t0010g0332 a0001c0004t0010g0333 a0001c0004t0010g0334 others(17): Show a0001c0004t0010g0332 a0001c0004t0010g0333 a0001c0004t0010g0334 a0001c0004t0010g0336 a0001c0004t0010g0337 a0001c0004t0010g0338 a0001c0004t0010g0347 a0001c0004t0010g0349 a0001c0004t0024g0340 a0001c0004t0024g0341 a0001c0004t0024g0352 a0001c0004t0025g0339 a0001c0004t0025g0343 a0001c0004t0025g0345 a0001c0004t0035g0348 a0001c0004t0035g0350 a0001c0004t0083g0335 a0001c0004t0085g0346 a0001c0004t0086g0344 a0001c0004t0087g0342	20	350	0.0571	-442	c.120 others(18): Show c.1205-1349_1205-908del	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	10/38			chr15	TogoVar
VPS53_chr17_503668_719839	642870	TCGAGGAC others(435): Show TCGAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTGGC AACCGAGGACAACACTCATACTTGGCAACCGAGGACAACTCTCATACTTG GAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACT TGGAAAGCGAGGACAACACTCATACTTGGAAATCAAGGACAACACTCATA CTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCA CACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT CATACTTGGAAAGCGAGGACAACACTCATACTTGGCAACTGAGGACAACA CTCATACTTGGAAACCGAGGACAACACTCATACTTGGAAAGTGAGGACAA CACTCATACTTGGAAAGTGAGGACAACACTCATACTGGGAAAC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	224	0.0045	-442	c.608 others(18): Show c.608+9979_608+10420del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF516_chr18_76352682_76500242	76394288	AGGTGGTC others(435): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	331	0.0030	-442	c.181 others(21): Show c.1811-14427_1811-13986del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394380	AGGTGGTC others(435): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0022 a0003c0007t0022	a0003c0007t0022g0269 a0003c0007t0022g0269	1	329	0.0030	-442	c.181 others(21): Show c.1811-14519_1811-14078del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACTN2_chr1_236681499_236769631	236756540	CGTTAGAA others(434): Show CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTA GAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAG AACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp2 NA18952.hp2 NA18955.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0022 a0001c0001 a0007c0022	a0001c0001t0001 a0001c0001t0003 a0007c0022t0001 a0001c0001t0001 a0001c0001t0003 a0007c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0155 a0001c0001t0001g0210 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0003g0021 a0007c0022t0001g0201	19	246	0.0772	-441	c.215 others(17): Show c.2155-931_2155-491del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	321947	CTGTTAGA others(434): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	64	0.0156	-441	c.392 others(19): Show c.3924+4618_3924+5058del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322339	CTGTTAGA others(434): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	69	0.0145	-441	c.392 others(19): Show c.3924+4226_3924+4666del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322535	TTGTTAGA others(434): Show TTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	70	0.0143	-441	c.392 others(19): Show c.3924+4030_3924+4470del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322761	CTCCGGCG others(434): Show CTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTG AGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	83	0.0120	-441	c.392 others(19): Show c.3924+3804_3924+4244del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2377938	GCTGGGAT others(434): Show GCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATGACCCTCGG TGTCATGGAGGAAGGAACAGGCGAGCGTTCCTGGGATGCTGTGTTGTGTG AATGACCCTTGGTGTCATGGAGGAAGGAACAGGCGAGCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03516.hp1 NA18943.hp1 others(2): Show HG02809.hp2 HG03516.hp1 NA18943.hp1 NA19002.hp2 NA19003.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0023 a0001c0001 a0002c0002 a0012c0023	a0001c0001t0001 a0002c0002t0001 a0012c0023t0001 a0001c0001t0001 a0002c0002t0001 a0012c0023t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0002c0002t0001g0192 others(2): Show a0001c0001t0001g0287 a0001c0001t0001g0288 a0002c0002t0001g0192 a0002c0002t0001g0193 a0012c0023t0001g0191	5	191	0.0262	-441	c.215 others(17): Show c.2155-741_2155-301del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXN3_chr14_89151177_89422233	89362305	ACCACCTC others(434): Show ACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCAC CTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGC TCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCAC CACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCA CCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACC ATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCACCACCAC CATCTCCACCACCACCTCCACCACCATCTCCACCACCACCACCACCACCA CCACCACCACCACCATCTCCACCACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	217	0.0046	-441	c.544 others(19): Show c.544-11938_544-11498del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
IDI1_chr10_1034419_1054119	1038639	GGCAGGTG others(434): Show GGCAGGTGGAGGGCAGTTCCCACAGGGACCCACTTCGGGTACAACCTGGG CTTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCG GGTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACA GGGACGCACTGCGGGTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAG GGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTGGACGTGTCCCCAG GGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTG GACTTGTCCCCATGGAGCAGGTGGAGGGCAGGTCCCACAGGGACGCACTG CGGGTACGACCTGGACTTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCA CAGGGACGCACTGCGGGTACGACCTGGACTTGTCCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02258.hp2 others(17): Show HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0008 a0001c0001t0004g0054 a0001c0001t0004g0074 others(5): Show a0001c0001t0004g0008 a0001c0001t0004g0054 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0093 a0001c0001t0013g0060	20	436	0.0459	-441	c.21 others(11): Show c.2107_*2547del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding		779		chr10	TogoVar
LPP_chr3_188149157_188895671	188784412	CATATATA others(434): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTTCCATCATATATATATTCCATCATATATATATTCCATC ATATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0058 a0002c0007t0008g0058	1	36	0.0278	-441	c.141 others(21): Show c.1410+24141_1410+24581del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC23_chr12_6899822_6919229	6909115	ATATAATA others(434): Show ATATAATATATAATATATAATTATATATTATATATTATATATTATATATA AAATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATATAATTAGATATAATATATAATTATATATTATATATAATTATAT ATAATATATTATATATAATTATATATAATACATAAATATATATAATAGTA TATATTATATATAATATATATAATATATAAATATATATAATAGTATATTA TATATAATATATTTTATATAATATATAAATATTATATATAATAGTATATT ATATATAATATATAAATATTATATATAATAGTATATAATATATAATATAT AATATATATTTTATATATTATATAATATATTATATATTATATATATAATA ACTCCACAGGAAGCCACTGAAATATTTAGTCTTTTAGACTCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0104 a0004c0004t0003g0104	1	314	0.0032	-441	c.622 others(15): Show c.622-772_622-332del	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1_chr20_64159452_64247253	64173804	GTAGTTGT others(434): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0020 a0001c0001t0014g0020	1	222	0.0045	-441	c.-99 others(17): Show c.-99+9201_-99+9641del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCBP3_chr21_45638725_45947450	45815108	GTGGTGAG others(434): Show GTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG GTGAGTAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG ATGAGTGAGTGGTGAGTGATGAGTGGTGAGTGATGAGTGAGTGGTGAGTG AGTGGTGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTG AGTGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGATGAGTGGTG AGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGT GGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGT GGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGTGAGTGGT GAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02004.hp1 HG01358.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0033 a0001c0002t0006g0104 a0001c0002t0006g0033 a0001c0002t0006g0104	2	289	0.0069	-441	c.-12 others(21): Show c.-125-34850_-125-34410del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX5_chr12_7184686_7216459	7196940	TAATGTAA others(434): Show TAATGTAATAATTATATGTCACATATAATGTAATAATTATATATGTCACA TATAATGTAATAATTATATATGTCACATATAATGTAATTATATATGTCAC ATATAATGTAATTATATATGTCACATATAATGTAATTATATATGTCACAT ATAATGTAATTATATATGTCATATAATGTAATAATATATGTCATATATAA TGTAATAATTATATATGTCATATATAATGTAATTATATATGTCATATATA ATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATGTAAT AATTATATGTCATATGTAATAATTATATATGTCATATATAATGTAATAAT TATATATGTCATATATAATGTAATCATATGTCATATACAATGTAATAATT ATATATGTCATATACAATGTAATAATTATATATGTCATATAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG02897.hp1 HG01261.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	407	0.0074	-441	c.449 others(17): Show c.449-2054_449-1614del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCXD1_chrX_276381_308356	297274	TCACATGG others(434): Show TCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACATG GGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGG GGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp1 NA18964.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0040 a0001c0001t0009 a0001c0001t0040	a0001c0001t0009g0077 a0001c0001t0040g0065 a0001c0001t0009g0077 a0001c0001t0040g0065	2	152	0.0132	-441	c.734 others(17): Show c.734-1811_734-1371del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297310	ATTATCCT others(434): Show ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTA TTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATT CTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00733.hp2 HG01071.hp1 HG01175.hp2 HG01346.hp1 HG01993.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG04184.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18975.hp1 NA18975.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0058 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0074 a0001c0001t0097 a0001c0002t0001 a0001c0002t0002 a0001c0003t0063 a0001c0004t0007 a0001c0006t0072 a0001c0014t0062	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0084 others(28): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0005g0081 a0001c0001t0005g0095 a0001c0001t0007g0131 a0001c0001t0009g0068 a0001c0001t0014g0119 a0001c0001t0016g0002 a0001c0001t0017g0099 a0001c0001t0058g0130 a0001c0001t0064g0036 a0001c0001t0066g0153 a0001c0001t0069g0043 a0001c0001t0074g0082 a0001c0001t0097g0034 a0001c0002t0001g0137 a0001c0002t0001g0160 a0001c0002t0002g0113 a0001c0002t0002g0151 a0001c0003t0063g0049 a0001c0004t0007g0116 a0001c0004t0007g0117 a0001c0006t0072g0114 a0001c0014t0062g0094	32	173	0.1850	-441	c.734 others(17): Show c.734-1782_734-1342del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298295	TCTGTCTC others(434): Show TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGT CTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTC TATCACATGGGGATTACGACGTGGACATCTTTGGGGACATTATTCTGTCT CCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTA TCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19057.hp1 HG00558.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	157	0.0127	-441	c.734 others(15): Show c.734-795_734-355del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRKCA_chr17_66297613_66815743	66799013	GTGGTGGT others(434): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	154	0.0065	-441	c.185 others(19): Show c.1855-4845_1855-4405del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072314	GCCCCCAG others(434): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	103	0.0097	-441	c.224 others(18): Show c.2241+878_2241+1318del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TBC1D22A_chr22_46757650_47180693	47175355	TCCGTCAC others(434): Show TCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTC GCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCAT GCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGG TTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTC CTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGC CTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTGCTGTCTGGAT GTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAAGCCGCGGCCTT GGCCTGTGATTCGAGGACTTGCCCATCGAGGACAGGGGCACCCTGGCCCA GCCCTGCCGAGGGTCTGAGCTCAGGGCCATTGCGGCGCACCA	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG00642.hp2 HG02965.hp2 HG03453.hp2 HG00642.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0044 a0001c0001t0007g0100 a0001c0001t0007g0036 a0001c0001t0007g0044 a0001c0001t0007g0100	3	112	0.0268	-441	c.17 others(11): Show c.1730_*2170del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	13/13	0		chr22	TogoVar
VPS53_chr17_503668_719839	550707	GGGGGTGA others(434): Show GGGGGTGAAAGACATGGTCTGTGCACTTACGGAATTGACATTCATTTGGG AAAAAAAGGCATAGGCACATAAAAGTCAAAAATAGGAAGATGAGGTAGCG CTCAGTAAGTGCCAAAGGAGGAGACTTGAGGGCCAAGGGCTGACTGATGG GCCACCACGATATTAGAAAACCAGAGTTCACAACCTGATCAAATACTCTT ACATTGGCACCAGAGCTCAGAAGGAGTTGGAAAAACCTCTCAGTGGGCAA GAATGAAGAATGAGTCAGAAGTTACTACTTTAAGCACTAATGAAAACACC CATTCTGGTGAGACCACACCAAGGTTTTTAGCATGTGTCAGATACTAATC AAAGATAATACGTAAATAAAGGACATGGCTGATTGGTTTTTAATTAACAA AAATGAATCTCCCATATTCAAGACTACATGAGAGATAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	230	0.0043	-441	c.186 others(18): Show c.1866+724_1866+1164del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(434): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAG GCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTG AAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGAC CGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTC CGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCT GAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	-441	c.151 others(15): Show c.151-969_151-529del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15931641	CGAGGAGA others(433): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0066 a0002c0001t0066	a0002c0001t0066g0044 a0002c0001t0066g0044	1	224	0.0045	-440	c.198 others(17): Show c.198+2130_199-2041del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931709	GGAATGAG others(433): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0139 a0002c0001t0139	a0002c0001t0139g0378 a0002c0001t0139g0378	1	379	0.0026	-440	c.198 others(17): Show c.198+2062_199-2109del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932023	AGGAGAAG others(433): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0053 a0003c0003t0053	a0003c0003t0053g0072 a0003c0003t0053g0072	1	327	0.0031	-440	c.198 others(17): Show c.198+1748_198+2187del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933425	GAGAAGAA others(433): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02257.hp1 NA18951.hp1 others(1): Show HG00609.hp1 HG02257.hp1 NA18951.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0002c0001 a0001c0002 a0001c0011 a0002c0001	a0001c0002t0005 a0001c0002t0118 a0001c0011t0052 others(1): Show a0001c0002t0005 a0001c0002t0118 a0001c0011t0052 a0002c0001t0136	a0001c0002t0005g0249 a0001c0002t0118g0248 a0001c0011t0052g0247 others(1): Show a0001c0002t0005g0249 a0001c0002t0118g0248 a0001c0011t0052g0247 a0002c0001t0136g0309	4	334	0.0120	-440	c.198 others(15): Show c.198+346_198+785del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90003415	TACCTTTA others(433): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCC CGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCC TCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	405	0.0025	-440	c.24 others(11): Show c.2480_*2919del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1455		chr16	TogoVar

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