Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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
ARHGEF10_chr8_1818926_1963641	1889165	GTTGGGGG others(132): Show GTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTG AATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGG AGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0006 a0003c0051t0006	a0003c0051t0006g0319 a0003c0051t0006g0319	1	363	0.0028	-139	c.118 others(19): Show c.1182+3460_1182+3598del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804113	TCCTCCTT others(132): Show TCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCT TCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCT CCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19081.hp2 NA18969.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0018 a0002c0003t0007 a0001c0002t0018 a0002c0003t0007	a0001c0002t0018g0189 a0002c0003t0007g0186 a0001c0002t0018g0189 a0002c0003t0007g0186	2	254	0.0079	-139	c.163 others(15): Show c.163-798_163-660del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79346415	TGGTCAGC others(132): Show TGGTCAGCGCACGTCAGCACGTGCTCAGCGCACAGTCAGCACACATTCGG CACACATTTAGCACACTACATGCTTGGCACACACTCAGCGCACCTCAGCA TGTGTTCAGTGCACAGTCAGCACACACTCGGCACACACTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(112): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0013	a0001c0001 a0001c0003 a0001c0010 others(12): Show a0001c0001 a0001c0003 a0001c0010 a0001c0014 a0001c0015 a0001c0025 a0001c0026 a0001c0038 a0001c0039 a0002c0005 a0002c0032 a0005c0009 a0005c0016 a0008c0030 a0013c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0003 a0001c0010t0001 a0001c0014t0006 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0001c0039t0002 a0002c0005t0001 a0002c0005t0004 a0002c0032t0005 a0005c0009t0005 a0005c0016t0001 a0008c0030t0001 a0013c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0131 a0001c0010t0001g0296 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0001c0039t0002g0266 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0004g0184 a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0008c0030t0001g0254 a0013c0023t0001g0042	115	298	0.3859	-139	c.268 others(17): Show c.2682+743_2682+881del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BRSK2_chr11_1384934_1467689	1430874	GTCTGGTC others(132): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0182 a0001c0001t0076g0182	1	360	0.0028	-139	c.92- others(15): Show c.92-5165_92-5027del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431393	GTCTGGTC others(132): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02165.hp2 others(2): Show HG00544.hp2 HG02040.hp2 HG02165.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 others(2): Show a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 a0002c0002t0056g0337	5	360	0.0139	-139	c.92- others(15): Show c.92-4646_92-4508del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431487	GTCTGGTC others(132): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0050 a0001c0001t0043g0050	1	360	0.0028	-139	c.92- others(15): Show c.92-4552_92-4414del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432997	GTCTGGTC others(132): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCCTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG02738.hp1 HG01123.hp2 HG01192.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0057 a0001c0001t0001 a0001c0001t0004 a0001c0001t0057	a0001c0001t0001g0189 a0001c0001t0004g0177 a0001c0001t0057g0184 a0001c0001t0001g0189 a0001c0001t0004g0177 a0001c0001t0057g0184	3	360	0.0083	-139	c.92- others(15): Show c.92-3042_92-2904del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CACNG7_chr19_53904278_53948950	53922254	GTCCCCAG others(132): Show GTCCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTATTGGTGG AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp1 HG02027.hp1 others(7): Show HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02080.hp2 HG02698.hp1 HG03942.hp2 HG04184.hp2 NA18972.hp2 NA18979.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 others(7): Show a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0346 a0001c0001t0002g0347	10	364	0.0275	-139	c.424 others(17): Show c.424+6750_424+6888del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12522793	ACCTCCCA others(132): Show ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGCGCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(96): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18999.hp1 NA19030.hp2 NA19043.hp1 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0056 a0001c0001t0059 a0001c0001t0064 a0001c0001t0069 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0082 a0001c0001t0083 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0098 a0001c0001t0105 a0001c0001t0106 a0001c0001t0111 a0001c0001t0113 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0052 a0001c0002t0053 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0068 a0001c0002t0107 a0001c0003t0022	a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0133 others(96): Show a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0172 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0141 a0001c0001t0004g0017 a0001c0001t0004g0134 a0001c0001t0005g0062 a0001c0001t0006g0178 a0001c0001t0006g0194 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0012g0174 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0019g0039 a0001c0001t0020g0031 a0001c0001t0020g0142 a0001c0001t0020g0158 a0001c0001t0022g0070 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0031g0170 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0035g0145 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0039g0014 a0001c0001t0039g0157 a0001c0001t0040g0055 a0001c0001t0040g0081 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0048g0182 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0059g0192 a0001c0001t0064g0105 a0001c0001t0069g0044 a0001c0001t0071g0121 a0001c0001t0076g0128 a0001c0001t0077g0184 a0001c0001t0082g0067 a0001c0001t0083g0061 a0001c0001t0087g0124 a0001c0001t0088g0087 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0091g0030 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0095g0149 a0001c0001t0098g0037 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0004g0077 a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0010g0209 a0001c0002t0011g0164 a0001c0002t0015g0148 a0001c0002t0016g0006 a0001c0002t0016g0186 a0001c0002t0021g0023 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0026g0166 a0001c0002t0027g0036 a0001c0002t0052g0214 a0001c0002t0053g0002 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0068g0021 a0001c0002t0107g0117 a0001c0003t0022g0024	99	214	0.4626	-139	c.93- others(17): Show c.93-30408_93-30270del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDC73_chr1_193117031_193259815	193161978	TCATATTA others(132): Show TCATATTATATTGTATATAATATATATCATATTATATTGTATATAATATA TATCATATTATATTGTATATAATATATATCATATTATATTGTATATAATA TATATCATATTATATTGTATATAATATATATCATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0109 a0001c0001t0015g0109	1	274	0.0037	-139	c.972 others(17): Show c.972+9535_972+9673del	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16			chr1	TogoVar
CDK12_chr17_39456486_39539544	39499071	CTTTCTTT others(132): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02155.hp1 HG02293.hp1 HG01975.hp2 HG02155.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0008g0064 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0008g0064	3	260	0.0115	-139	c.242 others(19): Show c.2420-2175_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621551	CTTCTTCT others(132): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(47): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02896.hp2 HG02922.hp2 HG03225.hp1 HG03490.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18970.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19068.hp1 NA20752.hp1 NA20905.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0004	a0000c0004 a0001c0001 a0002c0002 others(1): Show a0000c0004 a0001c0001 a0002c0002 a0004c0005	a0000c0004t0001 a0001c0001t0001 a0001c0001t0004 others(6): Show a0000c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0004c0005t0001	a0000c0004t0001g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 others(6): Show a0000c0004t0001g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0004c0005t0001g0000	50	298	0.1678	-139	c.-28 others(11): Show c.-2817_-2679del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2640		chrX	TogoVar
DACH1_chr13_71432966_71872204	71553312	CATATATC others(132): Show CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02486.hp1 others(18): Show HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0007 a0003c0003 a0004c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0007t0002 a0003c0003t0002 a0003c0003t0003 a0004c0004t0016 a0005c0008t0001	a0001c0001t0001g0040 a0001c0001t0002g0032 a0001c0001t0003g0017 others(18): Show a0001c0001t0001g0040 a0001c0001t0002g0032 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0048 a0001c0005t0002g0041 a0001c0005t0002g0043 a0002c0002t0001g0086 a0002c0002t0002g0073 a0002c0002t0003g0062 a0002c0002t0003g0075 a0002c0002t0003g0081 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0094 a0002c0007t0002g0067 a0002c0007t0002g0087 a0003c0003t0002g0002 a0003c0003t0003g0003 a0004c0004t0016g0101 a0005c0008t0001g0098	21	102	0.2059	-139	c.157 others(19): Show c.1570+3573_1570+3711del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(132): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19079.hp2 NA19005.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0144 a0001c0002t0002g0125 a0001c0002t0002g0144	2	380	0.0053	-139	c.121 others(17): Show c.1218+279_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDX51_chr12_132131594_132149319	132134770	ACGGTGCC others(132): Show ACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18960.hp1 NA18991.hp1 others(1): Show NA18747.hp2 NA18960.hp1 NA18991.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0005 a0002c0002t0003g0006	4	334	0.0120	-139	c.43 others(11): Show c.4363_*4501del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1823		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149180	CACACCAC others(132): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	334	0.0030	-139	c.-50 others(11): Show c.-5023_-4885del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4862		chr12	TogoVar
DGCR2_chr22_19031286_19127412	19076248	CCTCCTGG others(132): Show CCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA TTACAGGCATGCATCACCATACTCGGCTAATTTTTTTTTATATTTTTGGT AGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG03139.hp2 others(1): Show HG02559.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0020 a0002c0005t0045 a0002c0005t0020 a0002c0005t0045	a0002c0005t0020g0135 a0002c0005t0020g0136 a0002c0005t0020g0191 others(1): Show a0002c0005t0020g0135 a0002c0005t0020g0136 a0002c0005t0020g0191 a0002c0005t0045g0139	4	344	0.0116	-139	c.203 others(17): Show c.203-8162_203-8024del	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DHRS12_chr13_51762993_51809163	51775342	CCTACAGT others(132): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	420	0.0024	-139	c.364 others(17): Show c.364-1447_364-1309del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60048578	GCATATAA others(132): Show GCATATAAAATGATACTATCACCCTGGAAGATGTTTGTTTCTTTTAAGTT AAATATACATTGCCCATATTACTCAGCAATTGCAGTTACTAGAGTAGTGA GAATTTGATACTCCTGGAACTCTTCTACACTACTGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA19010.hp2 NA19043.hp2 NA19065.hp2 NA20129.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0009 a0003c0008t0001 a0007c0015t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 others(44): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0164 a0001c0001t0002g0201 a0001c0001t0005g0124 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0009g0170 a0003c0008t0001g0194 a0003c0008t0001g0195 a0007c0015t0001g0206	47	208	0.2260	-139	c.496 others(17): Show c.496-5897_496-5759del	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIP2C_chr10_269201_694668	321922	GCGGGGCT others(132): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02132.hp2 others(1): Show HG02040.hp1 HG02071.hp1 HG02132.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028	4	88	0.0455	-139	c.392 others(19): Show c.3924+4945_3924+5083del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323049	GCGGGGCT others(132): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	-139	c.392 others(19): Show c.3924+3818_3924+3956del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323098	GCGGGGCT others(132): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	88	0.0114	-139	c.392 others(19): Show c.3924+3769_3924+3907del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323147	GCGGGGCT others(132): Show GCGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG02071.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	88	0.0227	-139	c.392 others(19): Show c.3924+3720_3924+3858del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608317	ACACACAG others(132): Show ACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAGCC CCCCCCACACACAGCCCCCCACACACACACCCCCACAGCCCCCCACACAC ACCCCCAGCCCCCCCCACACACACCCCCCCCACACCCATC	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	-139	c.85+ others(17): Show c.85+81038_85+81176del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1317108	CTGTGCGA others(132): Show CTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTGGAGAAACTCG GCAGCTTTAAAAATAGAGCGTGTGTGAGTGCAGCGTCTCTCCAACAGTGG TCTACACTCGAGACACTCGGCAGCGTTTAAAAATAGAGCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp2 HG01361.hp1 HG01496.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0004 a0002c0001t0001 a0003c0005t0004	a0002c0001t0001g0018 a0003c0005t0004g0037 a0002c0001t0001g0018 a0003c0005t0004g0037	2	40	0.0500	-139	c.106 others(19): Show c.106+58264_106+58402del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNC2I1_chr7_158851558_158951189	158878471	GTGCCGGG others(132): Show GTGCCGGGTGCCATGTGGAGGGGCCAGGAGGGCCGACTGTGAGTGCCGGG CGCCATGTGGGGATGCCAGGAGGGCCGACTGTGAGTGTCGGGCGCCATGT GGGGAGGCGAGGAGGGGAGGCCAGGAGGGCCGACTGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	274	0.0037	-139	c.574 others(17): Show c.574-1195_574-1057del	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
ERICH1_chr8_659200_736224	676335	CGGCGAGG others(132): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19030.hp1 HG01071.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0222 a0001c0001t0001g0010 a0001c0001t0001g0222	2	378	0.0053	-139	c.305 others(17): Show c.305-2427_305-2289del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAF2_chr5_176443385_176515074	176477107	CTTTTTTT others(132): Show CTTTTTTTTTTTTTTTTTTAAGTTGAGGCGGGGTTTCACTGTGTTAGCCA GGATGGTCTGGATCTCCTGACCTCATGATCTGACCGCCTCGGCCTCCCAA AGTGCTGAGATTACAGGCATGAGCCACCGTGCCCGGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0020	1	372	0.0027	-139	c.64- others(15): Show c.64-2058_64-1920del	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM114A1_chr4_38862806_38950739	38921338	GCCTCAAA others(132): Show GCCTCAAACTCCTGGGCTCAAGCAGTCCTCTTACCTCAGCCTCTTGAGCA ACTGAGACCACAGGCGTGCACCAGCATTCCTGGCTAATTTTCTTAAAATT TTTTATAGAGATGGGGTCTCACTATGTTGATTGCTTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0014 a0001c0009t0003 a0001c0001t0014 a0001c0009t0003	a0001c0001t0014g0295 a0001c0009t0003g0335 a0001c0001t0014g0295 a0001c0009t0003g0335	2	372	0.0054	-139	c.946 others(17): Show c.946-1410_946-1272del	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAN1_chr15_30898915_30948108	30929752	AATATAAT others(132): Show AATATAATATATAAAATATATAATATATTATATCATATATAATATAATAT ATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATA TATCATATATAATATATATAAAATATATAATATATATCAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01346.hp1 others(12): Show HG00741.hp2 HG01123.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02451.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0010 a0001c0001 a0001c0004 a0011c0010	a0001c0001t0002 a0001c0004t0002 a0001c0004t0007 others(1): Show a0001c0001t0002 a0001c0004t0002 a0001c0004t0007 a0011c0010t0002	a0001c0001t0002g0028 a0001c0001t0002g0214 a0001c0001t0002g0217 others(5): Show a0001c0001t0002g0028 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0004t0002g0004 a0001c0004t0007g0004 a0001c0004t0007g0029 a0001c0004t0007g0229 a0011c0010t0002g0219	15	303	0.0495	-139	c.278 others(17): Show c.2787+383_2787+521del	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FGF21_chr19_48750524_48763330	48751603	AGGAGTTC others(132): Show AGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTT AAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCA GCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp1 NA19012.hp2 HG00423.hp1 NA18954.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	3	456	0.0066	-139	c.-45 others(11): Show c.-4527_-4389del	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		3920		chr19	TogoVar
FGR_chr1_27607064_27640185	27608847	TGTGTGTG others(132): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTA CCTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGG GGTATGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01192.hp2 others(3): Show HG00438.hp1 HG00673.hp1 HG01192.hp2 HG02293.hp1 HG04115.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0129 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0189 a0001c0001t0001g0192	6	278	0.0216	-139	c.39 others(11): Show c.3928_*4066del	FGR	ENSG00000000938.13	transcript	ENST00000374005.8	protein_coding		3216		chr1	TogoVar
FLT4_chr5_180596506_180654600	180635486	GTGGTGGG others(132): Show GTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18944.hp2 NA18948.hp2 others(2): Show HG00673.hp2 NA18944.hp2 NA18948.hp2 NA19043.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 a0001c0001t0001 a0001c0001t0002 a0002c0003t0003	a0001c0001t0001g0365 a0001c0001t0002g0107 a0002c0003t0003g0108 others(2): Show a0001c0001t0001g0365 a0001c0001t0002g0107 a0002c0003t0003g0108 a0002c0003t0003g0134 a0002c0003t0003g0141	5	388	0.0129	-139	c.59- others(15): Show c.59-3847_59-3709del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FNDC11_chr20_63549159_63561695	63559648	GGTCAGGT others(132): Show GGTCAGGTGGGAGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAG GAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18983.hp2 NA18986.hp2 others(1): Show NA18939.hp1 NA18983.hp2 NA18986.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	416	0.0096	-139	c.30 others(11): Show c.3029_*3167del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2954		chr20	TogoVar
FUT1_chr19_48743011_48757641	48751603	AGGAGTTC others(132): Show AGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTT AAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCA GCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18954.hp2 NA19012.hp1 HG00423.hp1 NA18954.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	438	0.0069	-139	c.-2- others(13): Show c.-2-459_-2-321del	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding	1/1			chr19	TogoVar
GABRG3_chr15_26966181_27546984	27388075	AAGGAAGG others(132): Show AAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAG GAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAG GAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	92	0.0109	-139	c.574 others(19): Show c.574+59197_574+59335del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805906	CCCCTCAG others(132): Show CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	314	0.0032	-139	c.17 others(11): Show c.1741_*1879del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1620		chr2	TogoVar
GATA5_chr20_62458497_62480995	62476959	TTTCTTTT others(132): Show TTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCC ATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0218 a0001c0002t0003g0218	1	382	0.0026	-139	c.-11 others(11): Show c.-1190_-1052del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		965		chr20	TogoVar
GFRA1_chr10_116051925_116278206	116196568	AATATATA others(132): Show AATATATATAATATATAGTACTATATATAATATATATATAGTACTATATA TAATATATATAATATATAGTACTATATATAATATATATATAGTACTATAT ATAATATATATAATATATAGTACTATATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG03540.hp1 HG01109.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0090 a0001c0001t0001 a0001c0001t0040 a0001c0001t0090	a0001c0001t0001g0091 a0001c0001t0040g0138 a0001c0001t0090g0007 a0001c0001t0001g0091 a0001c0001t0040g0138 a0001c0001t0090g0007	3	214	0.0140	-139	c.433 others(19): Show c.433+14924_433+15062del	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GLOD4_chr17_754330_787280	762488	GGCCGGCA others(132): Show GGCCGGCACCTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTT CATCACCATCCAGGCCCCGGCCGGCACCTACTCAGTGCGTGATCTTCAGG GATGAAGGGGAATAATTATTTCATCACCATCCAGGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02135.hp2 others(9): Show HG00733.hp2 HG01123.hp1 HG02135.hp2 HG02602.hp2 NA18747.hp2 NA18943.hp2 NA18960.hp1 NA18968.hp2 NA18989.hp2 NA18994.hp2 NA19010.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0051 a0002c0002t0002g0301 a0002c0002t0002g0302 others(8): Show a0002c0002t0002g0051 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0008g0306	12	420	0.0286	-139	c.832 others(17): Show c.832-2389_832-2251del	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	762507	CGTGATCT others(132): Show CGTGATCTTCAGGGATGAAGGGGAATAATTTCATCACCATCCAGGCCCCG GCCGGCACCTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTAT TTCATCACCATCCAGGCCCCTGCCTGCACCTACTCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02965.hp1 others(2): Show HG02572.hp1 HG02615.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298	5	420	0.0119	-139	c.832 others(17): Show c.832-2408_832-2270del	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GRTP1_chr13_113319163_113369130	113330235	GGGTGTGT others(132): Show GGGTGTGTGCATGGAAACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGC GTGGAAACTCAGGTGCGTGCATGGAGCCCAGGTGCGTGGATGGAAACCCA GGTGTGTGCATGGGAGCCCAGGTGTGTGGAAGGAAACCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	288	0.0035	-139	c.563 others(17): Show c.563-4283_563-4145del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GTPBP6_chrX_299759_323796	321612	AAAAAAAA others(132): Show AAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTC CCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTT GACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03195.hp2 NA18522.hp1 HG02965.hp1 HG03195.hp2 NA18522.hp1	a0006 a0010 a0017 a0006 a0010 a0017	a0006c0011 a0010c0029 a0017c0028 a0006c0011 a0010c0029 a0017c0028	a0006c0011t0003 a0010c0029t0005 a0017c0028t0005 a0006c0011t0003 a0010c0029t0005 a0017c0028t0005	a0006c0011t0003g0142 a0010c0029t0005g0077 a0017c0028t0005g0078 a0006c0011t0003g0142 a0010c0029t0005g0077 a0017c0028t0005g0078	3	155	0.0194	-139	c.-29 others(11): Show c.-2964_-2826del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2817		chrX	TogoVar
HELZ2_chr20_63553086_63579239	63559580	GAGTCAGG others(132): Show GAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAG TCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTCGGA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0004 a0022c0024t0004	a0022c0024t0004g0232 a0022c0024t0004g0232	1	390	0.0026	-139	c.782 others(17): Show c.7825+209_7826-211del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559648	GGTCAGGT others(132): Show GGTCAGGTGGGAGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAG GAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18983.hp2 NA18986.hp2 others(1): Show NA18939.hp1 NA18983.hp2 NA18986.hp2 NA19081.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0022 a0002c0015t0007 a0002c0015t0022	a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281 a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281	4	390	0.0103	-139	c.782 others(17): Show c.7825+141_7825+279del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
IGF2_chr11_2124117_2144389	2131931	TGCGTGTG others(132): Show TGCGTGTGTGTGCCGTGCGTTTGTGTGCTGTGTGTGCATGTGTGTGCGTG TGTGTGCTGTGCGTTTGTGTGTGTGCTGTGTGCTCATCTGTGTGCTGTGT GTGCTGTGCGTTTGTGTGTGTGCTGTGCTCGTGTGTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0142 a0001c0001t0130g0142	1	388	0.0026	-139	c.91 others(10): Show c.917_*1055del	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding	4/4	917		chr11	TogoVar
IPO11_chr5_62407763_62633582	62598410	TTCTTTCT others(132): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG06807.hp2 NA18950.hp1 others(1): Show HG01261.hp1 HG06807.hp2 NA18950.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0002t0001g0183 a0001c0002t0001g0200 others(1): Show a0001c0001t0001g0008 a0001c0002t0001g0183 a0001c0002t0001g0200 a0001c0002t0001g0222	4	330	0.0121	-139	c.267 others(19): Show c.2679-3352_2679-3214del	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IZUMO1_chr19_48735852_48751909	48751603	AGGAGTTC others(132): Show AGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTT AAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCA GCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18954.hp2 NA19012.hp2 HG00423.hp2 NA18954.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0001 a0001c0001t0001g0048	3	410	0.0073	-139	c.-53 others(11): Show c.-5381_-5243del	IZUMO1	ENSG00000182264.9	transcript	ENST00000332955.7	protein_coding		4695		chr19	TogoVar
JPH3_chr16_87597508_87703156	87686371	GGAGATGC others(132): Show GGAGATGCTTCCCAGAGGGCTCAGTCCTGGAGTCAGAGATGCTTCCTGGA GGGCTCAGTTCTGGATTCAGAGGAGATGCTTCCCAGAGGGCTCAGTCCTG GAGTCAGAGATGCTTCCTGGAGGGCTCAATCCTGGAGTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(37): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp1 HG03490.hp2 HG03516.hp2 HG03704.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0007 others(8): Show a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0036 a0004c0028	a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 others(17): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 a0001c0005t0008 a0001c0005t0034 a0001c0005t0037 a0001c0007t0007 a0001c0007t0008 a0001c0008t0005 a0001c0008t0008 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0012t0007 a0001c0013t0005 a0001c0013t0017 a0001c0014t0001 a0001c0036t0005 a0004c0028t0002	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 others(37): Show a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0163 a0001c0003t0002g0166 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0003t0007g0303 a0001c0005t0007g0032 a0001c0005t0007g0037 a0001c0005t0007g0057 a0001c0005t0007g0368 a0001c0005t0008g0084 a0001c0005t0008g0143 a0001c0005t0034g0100 a0001c0005t0037g0155 a0001c0007t0007g0244 a0001c0007t0008g0208 a0001c0008t0005g0089 a0001c0008t0005g0090 a0001c0008t0005g0361 a0001c0008t0008g0259 a0001c0010t0002g0049 a0001c0011t0002g0017 a0001c0011t0002g0094 a0001c0011t0002g0234 a0001c0011t0002g0328 a0001c0011t0002g0363 a0001c0012t0002g0310 a0001c0012t0002g0360 a0001c0012t0007g0247 a0001c0013t0005g0149 a0001c0013t0005g0315 a0001c0013t0017g0378 a0001c0014t0001g0366 a0001c0036t0005g0151 a0004c0028t0002g0021	40	380	0.1053	-139	c.128 others(19): Show c.1285+2112_1285+2250del	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JUN_chr1_58775791_58789047	58788647	TCAGTTTG others(132): Show TCAGTTTGGCAGGGGAAAGAAAGCATGGTGAACTCACATTGGCTTTAAAA GCTCCCTCCTAGGAATGACACTTTTTATTGTATTTACATATTATTGGCTA AAATTAGTCACATGGCCATGCCTTACTTAAAGGGTGCAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	440	0.0023	-139	c.-57 others(11): Show c.-5716_-5578del	JUN	ENSG00000177606.9	transcript	ENST00000371222.4	protein_coding		4601		chr1	TogoVar

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