Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASIC2_chr17_33008087_33298295	33194648	TATCAATC others(20): Show TATCAATCTGTTATTCCCAGATTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(167): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18960.hp2 NA18968.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(45): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0002t0025 a0001c0002t0029 a0001c0002t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0027 a0001c0006t0012 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0030 a0002c0003t0031	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(166): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0062 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0006g0017 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0047 a0001c0001t0006g0050 a0001c0001t0006g0057 a0001c0001t0007g0225 a0001c0001t0007g0227 a0001c0001t0007g0229 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0009g0015 a0001c0001t0009g0061 a0001c0001t0009g0072 a0001c0001t0009g0074 a0001c0001t0011g0002 a0001c0001t0013g0016 a0001c0001t0013g0051 a0001c0001t0014g0018 a0001c0001t0014g0019 a0001c0001t0019g0224 a0001c0001t0019g0232 a0001c0001t0020g0023 a0001c0001t0021g0030 a0001c0001t0022g0071 a0001c0001t0023g0084 a0001c0001t0024g0085 a0001c0001t0026g0092 a0001c0001t0034g0230 a0001c0001t0035g0226 a0001c0002t0001g0097 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0005g0096 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0108 a0001c0002t0006g0007 a0001c0002t0008g0106 a0001c0002t0010g0134 a0001c0002t0012g0088 a0001c0002t0015g0089 a0001c0002t0015g0090 a0001c0002t0025g0087 a0001c0002t0029g0104 a0001c0002t0032g0223 a0001c0004t0001g0001 a0001c0004t0001g0141 a0001c0004t0001g0147 a0001c0004t0001g0153 a0001c0004t0001g0160 a0001c0004t0001g0161 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0174 a0001c0004t0002g0142 a0001c0004t0002g0150 a0001c0004t0002g0152 a0001c0004t0002g0162 a0001c0004t0002g0163 a0001c0004t0002g0166 a0001c0004t0002g0167 a0001c0004t0002g0172 a0001c0004t0002g0175 a0001c0004t0004g0008 a0001c0004t0005g0144 a0001c0004t0005g0145 a0001c0004t0008g0143 a0001c0004t0008g0154 a0001c0004t0008g0170 a0001c0004t0010g0146 a0001c0004t0010g0151 a0001c0004t0016g0149 a0001c0004t0027g0148 a0001c0006t0012g0091 a0001c0007t0003g0048 a0002c0003t0001g0181 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0198 a0002c0003t0001g0201 a0002c0003t0001g0207 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0215 a0002c0003t0001g0220 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0185 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0203 a0002c0003t0002g0214 a0002c0003t0005g0184 a0002c0003t0005g0204 a0002c0003t0005g0209 a0002c0003t0008g0183 a0002c0003t0010g0206 a0002c0003t0017g0205 a0002c0003t0018g0202 a0002c0003t0030g0219 a0002c0003t0031g0222	170	238	0.7143	-27	c.709 others(46): Show c.709-82608_709-82582delTTCCCAATCTGGGAATAACAGATTGA T		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC4_chr2_219509482_219543772	219521719	CTCTGAGT others(20): Show CTCTGAGTTATAAGTTATAAGTATTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(196): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0018 others(25): Show a0001c0001 a0001c0002 a0001c0018 a0001c0021 a0001c0022 a0001c0029 a0002c0003 a0002c0006 a0002c0007 a0002c0009 a0002c0020 a0002c0023 a0002c0035 a0003c0004 a0003c0005 a0003c0027 a0004c0008 a0004c0010 a0004c0011 a0004c0012 a0004c0019 a0004c0026 a0004c0034 a0006c0037 a0008c0030 a0009c0016 a0011c0013 a0012c0017	a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 others(28): Show a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0029t0001 a0002c0003t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0007t0001 a0002c0009t0001 a0002c0020t0001 a0002c0023t0001 a0002c0035t0001 a0003c0004t0001 a0003c0005t0001 a0003c0005t0005 a0003c0027t0001 a0004c0008t0001 a0004c0010t0001 a0004c0011t0001 a0004c0012t0001 a0004c0019t0002 a0004c0026t0001 a0004c0034t0001 a0006c0037t0001 a0008c0030t0001 a0009c0016t0001 a0011c0013t0001 a0012c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0001g0137 a0001c0002t0001g0178 a0001c0018t0001g0148 a0001c0021t0001g0207 a0001c0022t0001g0216 a0001c0029t0001g0122 a0002c0003t0001g0031 a0002c0006t0001g0015 a0002c0006t0001g0016 a0002c0006t0001g0022 a0002c0006t0001g0034 a0002c0006t0001g0035 a0002c0006t0001g0146 a0002c0006t0001g0149 a0002c0006t0001g0150 a0002c0006t0001g0151 a0002c0006t0001g0179 a0002c0006t0001g0219 a0002c0006t0002g0184 a0002c0006t0003g0152 a0002c0007t0001g0221 a0002c0009t0001g0107 a0002c0009t0001g0147 a0002c0020t0001g0175 a0002c0023t0001g0235 a0002c0035t0001g0236 a0003c0004t0001g0007 a0003c0004t0001g0032 a0003c0004t0001g0048 a0003c0004t0001g0049 a0003c0004t0001g0056 a0003c0004t0001g0102 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0138 a0003c0005t0001g0019 a0003c0005t0001g0036 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0005t0001g0161 a0003c0005t0001g0182 a0003c0005t0001g0192 a0003c0005t0001g0213 a0003c0005t0001g0226 a0003c0005t0001g0228 a0003c0005t0001g0230 a0003c0005t0001g0231 a0003c0005t0001g0232 a0003c0005t0001g0238 a0003c0005t0005g0229 a0003c0027t0001g0131 a0004c0008t0001g0039 a0004c0008t0001g0041 a0004c0008t0001g0204 a0004c0008t0001g0205 a0004c0008t0001g0240 a0004c0008t0001g0241 a0004c0010t0001g0176 a0004c0010t0001g0177 a0004c0010t0001g0183 a0004c0010t0001g0185 a0004c0011t0001g0039 a0004c0012t0001g0021 a0004c0012t0001g0186 a0004c0019t0002g0180 a0004c0026t0001g0181 a0004c0034t0001g0104 a0006c0037t0001g0145 a0008c0030t0001g0120 a0009c0016t0001g0222 a0011c0013t0001g0046 a0012c0017t0001g0223	199	370	0.5378	-27	c.582 others(44): Show c.582+6414_582+6440delTCTGAGTTATAAGTTATAAGTATTCCT		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	1/9						chr2	TogoVar
ASIC4_chr2_219509482_219543772	219535451	GTGTGGGT others(20): Show GTGTGGGTGTGTATGTGTGTGGGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0068 a0002c0009t0001g0068	1	370	0.0027	-27	c.122 others(44): Show c.1229+140_1229+166delTGTGTGTGGGGTGTATGTGGGTGTGTA		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASIC4_chr2_219509482_219543772	219542586	ATTATGCC others(20): Show ATTATGCCACAAATGCCTCACATAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	370	0.0027	-27	c.45 others(38): Show c.4541_*4567delTTATGCCACAAATGCCTCACATAAATG		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding					3815		chr2	TogoVar
ASMTL_chrX_1398139_1457909	1402607	ACTCCCCA others(20): Show ACTCCCCAAATGCAGCCTCCTTCCCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 NA18971.hp2 NA19081.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0038 a0003c0027 others(1): Show a0002c0003 a0002c0038 a0003c0027 a0004c0007	a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 others(1): Show a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 a0004c0007t0002	a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 others(8): Show a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0038t0002g0071 a0003c0027t0002g0027 a0004c0007t0002g0072	11	183	0.0601	-27	c.63 others(36): Show c.635_*661delGAGGGGAAGGAGGCTGCATTTGGGGAG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					531		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1402810	TCTTCCCC others(20): Show TCTTCCCCTCCTCCCCGAATGCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(170): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0008 a0001c0010 others(35): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0031 a0001c0035 a0001c0037 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0013 a0002c0014 a0002c0028 a0002c0029 a0002c0030 a0002c0038 a0003c0002 a0003c0006 a0003c0018 a0003c0026 a0003c0039 a0004c0007 a0004c0009 a0005c0024 a0005c0033 a0005c0034 a0006c0017 a0007c0016 a0008c0015 a0009c0020 a0010c0019 a0011c0040 a0012c0025 a0013c0021 a0014c0022 a0015c0036 a0017c0023	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(38): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0031t0001 a0001c0035t0001 a0001c0037t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0011t0001 a0002c0013t0001 a0002c0014t0001 a0002c0028t0001 a0002c0029t0001 a0002c0030t0001 a0002c0038t0002 a0003c0002t0001 a0003c0002t0003 a0003c0006t0001 a0003c0018t0001 a0003c0026t0001 a0003c0039t0001 a0004c0007t0001 a0004c0007t0002 a0004c0009t0001 a0005c0024t0001 a0005c0033t0001 a0005c0034t0001 a0006c0017t0001 a0007c0016t0001 a0008c0015t0001 a0009c0020t0001 a0010c0019t0001 a0011c0040t0001 a0012c0025t0001 a0013c0021t0001 a0014c0022t0001 a0015c0036t0001 a0017c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(168): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0008t0001g0033 a0001c0008t0001g0045 a0001c0008t0001g0087 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0138 a0001c0008t0001g0150 a0001c0008t0001g0159 a0001c0008t0001g0160 a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 a0001c0012t0001g0167 a0001c0031t0001g0125 a0001c0035t0001g0101 a0001c0037t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0075 a0002c0003t0001g0106 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0130 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0004t0001g0009 a0002c0004t0001g0013 a0002c0004t0001g0020 a0002c0004t0001g0041 a0002c0004t0001g0093 a0002c0004t0001g0095 a0002c0004t0001g0104 a0002c0004t0001g0107 a0002c0004t0001g0148 a0002c0004t0001g0158 a0002c0004t0001g0179 a0002c0005t0001g0001 a0002c0005t0001g0031 a0002c0005t0001g0044 a0002c0005t0001g0068 a0002c0005t0001g0081 a0002c0005t0001g0091 a0002c0005t0001g0127 a0002c0005t0001g0134 a0002c0005t0001g0143 a0002c0011t0001g0078 a0002c0011t0001g0098 a0002c0011t0001g0103 a0002c0013t0001g0076 a0002c0013t0001g0180 a0002c0014t0001g0002 a0002c0028t0001g0133 a0002c0029t0001g0174 a0002c0030t0001g0139 a0002c0038t0002g0071 a0003c0002t0001g0004 a0003c0002t0001g0012 a0003c0002t0001g0014 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0074 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0105 a0003c0002t0001g0108 a0003c0002t0001g0111 a0003c0002t0001g0132 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0147 a0003c0002t0001g0149 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0003g0100 a0003c0006t0001g0010 a0003c0006t0001g0016 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0069 a0003c0006t0001g0092 a0003c0006t0001g0102 a0003c0006t0001g0136 a0003c0006t0001g0144 a0003c0006t0001g0151 a0003c0018t0001g0048 a0003c0026t0001g0155 a0003c0039t0001g0011 a0004c0007t0001g0007 a0004c0007t0001g0026 a0004c0007t0001g0059 a0004c0007t0001g0060 a0004c0007t0001g0088 a0004c0007t0001g0122 a0004c0007t0001g0142 a0004c0007t0002g0072 a0004c0009t0001g0030 a0004c0009t0001g0085 a0004c0009t0001g0126 a0004c0009t0001g0128 a0005c0024t0001g0178 a0005c0033t0001g0166 a0005c0034t0001g0113 a0006c0017t0001g0182 a0006c0017t0001g0183 a0007c0016t0001g0170 a0007c0016t0001g0171 a0008c0015t0001g0169 a0008c0015t0001g0172 a0009c0020t0001g0141 a0010c0019t0001g0017 a0011c0040t0001g0046 a0012c0025t0001g0164 a0013c0021t0001g0055 a0014c0022t0001g0157 a0015c0036t0001g0165 a0017c0023t0001g0114	173	181	0.9558	-27	c.43 others(36): Show c.432_*458delGAGGCTGCATTCGGGGAGGAGGGGAAG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					328		chrX	TogoVar
ASTL_chr2_96117818_96143502	96138597	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(64): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01109.hp2 HG01167.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp2 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA19001.hp2 NA19005.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0001c0014 others(2): Show a0001c0001 a0001c0010 a0001c0014 a0002c0003 a0006c0009	a0001c0001t0001 a0001c0001t0010 a0001c0010t0001 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0010t0001 a0001c0014t0001 a0002c0003t0002 a0002c0003t0008 a0006c0009t0001 a0006c0009t0007	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0010g0064 a0001c0010t0001g0030 a0001c0014t0001g0060 a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0101 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0117 a0002c0003t0002g0125 a0002c0003t0008g0100 a0006c0009t0001g0067 a0006c0009t0007g0066	67	349	0.1920	-27	c.-18 others(36): Show c.-188_-162delATGGTTGGGGCGGGGCTGCAGGTGGAG		ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding					96		chr2	TogoVar
ASTN1_chr1_176856067_177169712	176991413	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAACCAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0013 a0001c0002t0020g0007 a0001c0002t0002g0013 a0001c0002t0020g0007	2	49	0.0408	-27	c.152 others(48): Show c.1523+23351_1523+23377delTTTTGGTTTTTTTTTTTTTTTTTT TTT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	117415138	CTCCCGGG others(20): Show CTCCCGGGGCCCAGCCGCCCGTCCCCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03471.hp2 NA20300.hp1 others(1): Show HG03041.hp1 HG03471.hp2 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 others(1): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006	a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 others(1): Show a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003	4	100	0.0400	-27	c.-22 others(36): Show c.-227_-201delTCGGGGACGGGCGGCTGGGCCCCGGGA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding					82		chr9	TogoVar
ATCAY_chr19_3875685_3933082	3879506	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0002t0009 a0001c0007t0001	a0001c0001t0001g0256 a0001c0001t0001g0325 a0001c0001t0002g0191 others(12): Show a0001c0001t0001g0256 a0001c0001t0001g0325 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0242 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0010g0186 a0001c0001t0010g0264 a0001c0001t0012g0237 a0001c0001t0014g0262 a0001c0002t0009g0241 a0001c0007t0001g0263	15	247	0.0607	-27	c.-15 others(38): Show c.-1543_-1517delAAGAAAGAAAGAAAGAAAGAAAGAAAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding					1178		chr19	TogoVar
ATG14_chr14_55361391_55416830	55402919	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	351	0.0028	-27	c.222 others(44): Show c.222-5512_222-5486delATATATATATATATATATATTTTTTTT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	122	0.0082	-27	c.148 others(36): Show c.1482_1508delGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln494_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2070/4702	1482/3573	494/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653595	ATACATAT others(20): Show ATACATATATACATATATACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02886.hp1 HG01069.hp1 HG01071.hp2 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0020 a0001c0006t0003 a0001c0006t0020	a0001c0006t0003g0104 a0001c0006t0003g0105 a0001c0006t0020g0184 a0001c0006t0003g0104 a0001c0006t0003g0105 a0001c0006t0020g0184	3	234	0.0128	-27	c.676 others(44): Show c.676-4366_676-4340delATATATATGTATATATGTATATATGTA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653598	CATATATA others(20): Show CATATATACATATATACATATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20752.hp1 HG02572.hp2 NA20752.hp1	a0001 a0010 a0001 a0010	a0001c0028 a0010c0014 a0001c0028 a0010c0014	a0001c0028t0008 a0010c0014t0028 a0001c0028t0008 a0010c0014t0028	a0001c0028t0008g0030 a0010c0014t0028g0141 a0001c0028t0008g0030 a0010c0014t0028g0141	2	143	0.0140	-27	c.676 others(44): Show c.676-4369_676-4343delATAATATATATGTATATATGTATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160815490	AAGTCCTT others(20): Show AAGTCCTTAGAGACCTACAAAGAGACTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18972.hp2 NA19067.hp2 NA18954.hp1 NA18972.hp2 NA19067.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0004c0009t0001 a0001c0001t0001 a0001c0001t0004 a0004c0009t0001	a0001c0001t0001g0060 a0001c0001t0004g0058 a0004c0009t0001g0059 a0001c0001t0001g0060 a0001c0001t0004g0058 a0004c0009t0001g0059	3	234	0.0128	-27	c.-57 others(48): Show c.-575-29714_-575-29688delAAGTCTCTTTGTAGGTCTCTAAGG ACT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112762226	GGGTCCTG others(20): Show GGGTCCTGCTGGCCTCCTATCACAGCGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0176 a0001c0001t0054g0176	1	252	0.0040	-27	c.40- others(44): Show c.40-22905_40-22879delCCTGCTGGCCTCCTATCACAGCGAGGT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112803769	CCTTCCTC others(20): Show CCTTCCTCTCCCTCCCCTCCCTGCCTTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0138 a0001c0001t0062g0138	1	252	0.0040	-27	c.163 others(44): Show c.163-1182_163-1156delTCTCCCTCCCCTCCCTGCCTTACTTCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A1_chr19_19640198_19668676	19666607	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG03486.hp1 others(1): Show HG02809.hp2 HG02895.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	4	65	0.0615	-27	c.-29 others(38): Show c.-2968_-2942delAAAAAAAAAAAAAAAAAAAAAAAAAAA		ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding					2932		chr19	TogoVar
ATP1B4_chrX_120357089_120388237	120374583	AATATATA others(20): Show AATATATATATACCCTTATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG01109.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0099 a0001c0001t0007g0100 a0001c0001t0001g0099 a0001c0001t0007g0100	2	349	0.0057	-27	c.563 others(42): Show c.563-781_563-755delTATACCCTTATATATAATATATATATA		ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2C1_chr3_130889084_131008150	130894512	GCTCCCGA others(20): Show GCTCCCGAGATAGTGGCTGGGCGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0374 a0001c0002t0001g0374	1	380	0.0026	-27	c.-18 others(42): Show c.-180-73_-180-47delCGAGATAGTGGCTGGGCGGGGAACTCC		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84447396	GAAAGCTT others(20): Show GAAAGCTTCTTTCATTCCACCCTTCTTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA19240.hp1 HG01167.hp1 HG01169.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0028 a0002c0021 a0001c0028 a0002c0021	a0001c0028t0001 a0002c0021t0001 a0001c0028t0001 a0002c0021t0001	a0001c0028t0001g0004 a0002c0021t0001g0233 a0002c0021t0001g0234 a0001c0028t0001g0004 a0002c0021t0001g0233 a0002c0021t0001g0234	3	430	0.0070	-27	c.150 others(44): Show c.1503+967_1503+993delAAAGCTTCTTTCATTCCACCCTTCTTC		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	16/26						chr16	TogoVar
ATP5PD_chr17_75033863_75051969	75051786	AGGAAATT others(20): Show AGGAAATTTAATACTGATGCTTTTATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	426	0.0023	-27	c.-48 others(38): Show c.-4898_-4872delAGATAAAAGCATCAGTATTAAATTTCC		ATP5PD	ENSG00000167863.12	transcript	ENST00000301587.9	protein_coding					4818		chr17	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631692	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	340	0.0029	-27	c.-30 others(38): Show c.-3084_-3058delAAAAAAAAAAAAATATATATATATATA		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding					2944		chr22	TogoVar
ATP6V1G3_chr1_198518222_198545680	198524973	GCGCTTGG others(20): Show GCGCTTGGGTTCAAGTTCTTTCTGTTTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	404	0.0025	-27	c.184 others(44): Show c.184-1436_184-1410delTAAACAGAAAGAACTTGAACCCAAGCG		ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	2/2						chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53755715	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	284	0.0035	-27	c.127 others(44): Show c.1277+813_1277+839delTATATATATATATATATATATATATAT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755717	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	283	0.0035	-27	c.127 others(44): Show c.1277+811_1277+837delTATATATATATATATATATATATATAT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755718	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	274	0.0036	-27	c.127 others(44): Show c.1277+810_1277+836delATATATATATATATATATATATATATA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755722	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	283	0.0035	-27	c.127 others(44): Show c.1277+806_1277+832delAAAAATATATATATATATATATATATA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25531245	TTATATAT others(20): Show TTATATATGATATATATGATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG01175.hp2 HG01496.hp1	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0017 a0001c0019t0007 a0001c0011t0017 a0001c0019t0007	a0001c0011t0017g0121 a0001c0019t0007g0028 a0001c0011t0017g0121 a0001c0019t0007g0028	2	69	0.0290	-27	c.420 others(42): Show c.420+594_420+620delATATATATGATATATATGATATATATG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531272	ATATATAT others(20): Show ATATATATGTTATATATGATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02015.hp1 HG02257.hp1 others(11): Show HG00738.hp1 HG02015.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02896.hp1 HG03486.hp2 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(10): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0027 a0001c0003t0060 a0001c0003t0065 a0001c0003t0069 a0001c0005t0012	a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 others(11): Show a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0007g0109 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0027g0047 a0001c0003t0060g0115 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0005t0012g0020	14	83	0.1687	-27	c.420 others(42): Show c.420+621_420+647delTTATATATGATATATATGTTATATATG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25976557	GGTCTGAT others(20): Show GGTCTGATGAAAAGGGTCACAGTCTGCT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	120	0.0083	-27	c.337 others(46): Show c.3377+7884_3377+7910delATGAAAAGGGTCACAGTCTGCTGTCT G		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	26029336	AGGATGCT others(20): Show AGGATGCTTTTGCATTTGTGTGCATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0053 a0001c0001t0051g0053	1	120	0.0083	-27	c.93 others(38): Show c.9352_*9378delGGATGCTTTTGCATTTGTGTGCATGAG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding					3486		chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57753935	AAAAAAAA others(20): Show AAAAAAAAAAAAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0311 a0001c0001t0026g0311	1	312	0.0032	-27	c.-25 others(46): Show c.-25-22130_-25-22104delCTTTTCTTTCTTTCTTTTTTTTTTTT T		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57761097	AAAAATAA others(20): Show AAAAATAAAATAAAATATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG03688.hp2 HG00408.hp2 HG00733.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0024 a0003c0003t0022 a0003c0003t0024	a0003c0003t0022g0111 a0003c0003t0024g0144 a0003c0003t0024g0185 a0003c0003t0022g0111 a0003c0003t0024g0144 a0003c0003t0024g0185	3	308	0.0097	-27	c.-25 others(46): Show c.-25-29292_-25-29266delATTTTATTTTATATTTTATTTTATTT T		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP9A_chr20_51591514_51773390	51651237	CATAATAT others(20): Show CATAATATATATTTACATAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(41): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG04199.hp1 NA18906.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0019	a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 others(16): Show a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0025 a0001c0002t0029 a0001c0002t0053 a0001c0003t0007 a0001c0003t0010 a0001c0003t0020 a0001c0003t0029 a0001c0014t0023 a0001c0019t0010	a0001c0001t0036g0119 a0001c0002t0001g0205 a0001c0002t0002g0005 others(41): Show a0001c0001t0036g0119 a0001c0002t0001g0205 a0001c0002t0002g0005 a0001c0002t0002g0164 a0001c0002t0003g0039 a0001c0002t0003g0066 a0001c0002t0004g0048 a0001c0002t0004g0054 a0001c0002t0004g0065 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0102 a0001c0002t0004g0141 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0192 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0203 a0001c0002t0004g0206 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0303 a0001c0002t0007g0006 a0001c0002t0007g0016 a0001c0002t0007g0163 a0001c0002t0011g0051 a0001c0002t0011g0135 a0001c0002t0013g0055 a0001c0002t0015g0047 a0001c0002t0016g0049 a0001c0002t0016g0053 a0001c0002t0016g0056 a0001c0002t0016g0151 a0001c0002t0025g0074 a0001c0002t0029g0044 a0001c0002t0053g0092 a0001c0003t0007g0132 a0001c0003t0010g0156 a0001c0003t0010g0306 a0001c0003t0020g0133 a0001c0003t0029g0107 a0001c0014t0023g0162 a0001c0019t0010g0123	44	303	0.1452	-27	c.150 others(46): Show c.1506+5674_1506+5700delATAATATATTATGTAAATATATATTA T		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0218 a0001c0003t0031g0218	1	6	0.1667	-27	c.386 others(46): Show c.3864-3373_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTTT T		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN1_chr6_16294112_16766460	16327657	CTGCTGCT others(20): Show CTGCTGCTGCTGCTGCTGCTGATGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0004 a0002c0018t0002g0004	1	180	0.0056	-27	c.627 others(34): Show c.627_653delTCAGCATCAGCAGCAGCAGCAGCAGCA	p.His others(13): Show p.His209_Gln217del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1545/10557	627/2448	209/815			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111503847	CCCAAAGT others(20): Show CCCAAAGTGTTAGGATTATAGGTATCAG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02486.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0022 a0003c0004t0003g0023 a0003c0004t0003g0022 a0003c0004t0003g0023	2	296	0.0068	-27	c.193 others(46): Show c.1935+5675_1935+5701delCTGATACCTATAATCCTAACACTTTG G		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	14/24						chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533853	AAAAAATA others(20): Show AAAAAATAAAAATAAAAAAAAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01069.hp1 others(51): Show HG00438.hp2 HG00544.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01256.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp1 NA18956.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19076.hp2 NA19080.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0024 a0001c0001t0025 a0001c0001t0048 a0001c0001t0049 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0011g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 a0001c0001t0048g0000 a0001c0001t0049g0000 a0001c0001t0060g0000 a0001c0001t0061g0000 a0001c0001t0065g0000	54	282	0.1915	-27	c.-42 others(38): Show c.-4259_-4233delAAAAATAAAAATAAAAAAAAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3981		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533857	AATAAAAA others(20): Show AATAAAAATAAAAAAAAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01175.hp1 others(27): Show HG00639.hp2 HG00741.hp1 HG01175.hp1 HG01515.hp2 HG02027.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03831.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18949.hp1 NA18949.hp2 NA18956.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19063.hp2 NA19080.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0071 a0001c0001t0076 others(7): Show a0001c0001t0002 a0001c0001t0071 a0001c0001t0076 a0001c0001t0079 a0001c0002t0006 a0001c0002t0009 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047	a0001c0001t0002g0000 a0001c0001t0071g0000 a0001c0001t0076g0000 others(7): Show a0001c0001t0002g0000 a0001c0001t0071g0000 a0001c0001t0076g0000 a0001c0001t0079g0000 a0001c0002t0006g0000 a0001c0002t0009g0000 a0001c0002t0044g0000 a0001c0002t0045g0000 a0001c0002t0046g0000 a0001c0002t0047g0000	30	365	0.0822	-27	c.-42 others(38): Show c.-4255_-4229delATAAAAATAAAAAAAAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3977		chr12	TogoVar
AVL9_chr7_32490489_32593726	32579426	TAATATAT others(20): Show TAATATATATATTATATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0080 a0001c0001t0079 a0001c0001t0080	a0001c0001t0079g0312 a0001c0001t0080g0313 a0001c0001t0079g0312 a0001c0001t0080g0313	2	159	0.0126	-27	c.168 others(44): Show c.1689-792_1689-766delAATATATATATTATATATAATATATTA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15						chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678910	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19060.hp1 NA19090.hp1 HG03710.hp1 NA19060.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0001g0147 a0001c0001t0002g0080 a0001c0001t0002g0086	3	357	0.0084	-27	c.287 others(42): Show c.287+682_287+708delCACACACACACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678912	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	441	0.0023	-27	c.287 others(42): Show c.287+680_287+706delCACACACACACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(20): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0219 a0002c0001t0001g0219	1	168	0.0060	-27	c.209 others(46): Show c.2092-2903_2092-2877delCTTTCTTTCTTTCTTTCTTTCTTTCT T		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25						chr1	TogoVar
AZU1_chr19_822837_837018	833272	TAATAATA others(20): Show TAATAATAAGAAGAAGAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-27	c.13 others(38): Show c.1396_*1422delAATAATAAGAAGAAGAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1255		chr19	TogoVar
B4GALNT4_chr11_364499_387117	369967	GGGCGCGG others(20): Show GGGCGCGGGGGGCGCGGGGGGCGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01934.hp1 HG01975.hp2 others(3): Show HG01258.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02723.hp1 HG03139.hp2	a0002 a0012 a0014 others(1): Show a0002 a0012 a0014 a0017	a0002c0002 a0012c0040 a0014c0030 others(1): Show a0002c0002 a0012c0040 a0014c0030 a0017c0031	a0002c0002t0001 a0012c0040t0001 a0014c0030t0004 others(1): Show a0002c0002t0001 a0012c0040t0001 a0014c0030t0004 a0017c0031t0004	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0012c0040t0001g0007 a0014c0030t0004g0011 a0017c0031t0004g0012	6	179	0.0335	-27	c.151 others(40): Show c.151+36_151+62delGGGGCGGCGCGGGGGGCGCGGGGGGCG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	369990	GGGGCGGC others(20): Show GGGGCGGCGCGGGGGGCGCGGGGGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0050 a0001c0003t0004g0050	1	180	0.0056	-27	c.151 others(40): Show c.151+58_151+84delGGGCGCGGGCGGCGCGGGGGGCGCGGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT2_chr1_43974210_43996168	43988921	AGCTGACA others(20): Show AGCTGACATCTCTGTTTTGAGGGCCAAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0121 a0001c0001t0010g0121	1	404	0.0025	-27	c.969 others(44): Show c.969-1374_969-1348delTGACATCTCTGTTTTGAGGGCCAATGC		B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
B4GAT1_chr11_66340374_66352629	66341884	ACGTGCTT others(20): Show ACGTGCTTGTGTGTAGGGGCTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01934.hp1 HG02965.hp2 others(8): Show HG00544.hp1 HG01934.hp1 HG02965.hp2 HG02976.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA18947.hp2 NA18975.hp2 NA19084.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0002 a0003c0004t0001g0008 a0001c0002t0001g0002 a0003c0004t0001g0008	11	410	0.0268	-27	c.41 others(38): Show c.4138_*4164delCACACACAGCCCCTACACACAAGCACG		B4GAT1	ENSG00000174684.7	transcript	ENST00000311181.5	protein_coding					3489		chr11	TogoVar
BACH1_chr21_29293922_29351148	29294321	CCCCCACC others(20): Show CCCCCACCTTTAAAGCCTAGTTGTTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	366	0.0027	-27	c.-46 others(38): Show c.-4692_-4666delCCCCACCTTTAAAGCCTAGTTGTTTTG		BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding					4600		chr21	TogoVar

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