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	status	chr	external
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP2A7_chr19_40870439_40887231	40875778	G G	T T	stop_gained stop_gained	HIGH	HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG01981.hp2 HG02486.hp2 HG02615.hp2 HG02897.hp2 HG02970.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp2	a0006 a0026 a0027 a0006 a0026 a0027	a0006c0010 a0006c0016 a0006c0021 others(4): Show a0006c0010 a0006c0016 a0006c0021 a0006c0022 a0006c0028 a0026c0029 a0027c0040	a0006c0010t0001 a0006c0016t0001 a0006c0021t0007 others(4): Show a0006c0010t0001 a0006c0016t0001 a0006c0021t0007 a0006c0022t0002 a0006c0028t0007 a0026c0029t0001 a0027c0040t0001	a0006c0010t0001g0007 a0006c0016t0001g0015 a0006c0021t0007g0163 others(5): Show a0006c0010t0001g0007 a0006c0016t0001g0015 a0006c0021t0007g0163 a0006c0021t0007g0164 a0006c0022t0002g0028 a0006c0028t0007g0044 a0026c0029t0001g0043 a0027c0040t0001g0101	22	396	0.0556	0	c.140 others(4): Show c.1400C>A	p.Ser others(4): Show p.Ser467*	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	9/9	1421/1760	1400/1485	467/494		chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41116202	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(11): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0017 a0002c0018 a0002c0019 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0002c0034	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0003t0003 a0002c0005t0002 a0002c0005t0006 a0002c0005t0010 a0002c0005t0014 a0002c0010t0003 a0002c0017t0002 a0002c0018t0003 a0002c0019t0002 a0002c0028t0003 a0002c0029t0003 a0002c0030t0002 a0002c0031t0002 a0002c0032t0002 a0002c0033t0002 a0002c0034t0002	a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0131 a0002c0002t0011g0020 a0002c0002t0017g0121 a0002c0003t0003g0021 a0002c0003t0003g0037 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0129 a0002c0003t0003g0133 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0146 a0002c0003t0003g0148 a0002c0003t0003g0158 a0002c0005t0002g0030 a0002c0005t0002g0031 a0002c0005t0002g0057 a0002c0005t0002g0058 a0002c0005t0002g0063 a0002c0005t0002g0064 a0002c0005t0002g0065 a0002c0005t0006g0040 a0002c0005t0006g0117 a0002c0005t0006g0118 a0002c0005t0006g0119 a0002c0005t0006g0120 a0002c0005t0006g0155 a0002c0005t0006g0156 a0002c0005t0010g0031 a0002c0005t0010g0069 a0002c0005t0010g0070 a0002c0005t0014g0067 a0002c0010t0003g0132 a0002c0010t0003g0145 a0002c0010t0003g0147 a0002c0010t0003g0149 a0002c0010t0003g0162 a0002c0017t0002g0088 a0002c0017t0002g0089 a0002c0018t0003g0115 a0002c0018t0003g0116 a0002c0019t0002g0068 a0002c0019t0002g0071 a0002c0028t0003g0134 a0002c0029t0003g0128 a0002c0030t0002g0007 a0002c0031t0002g0066 a0002c0032t0002g0098 a0002c0033t0002g0020 a0002c0034t0002g0099	114	372	0.3065	1	c.15d others(3): Show c.15dupC	p.Thr others(3): Show p.Thr6fs	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	2/10	88/1847	16/1476	6/491	INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0006c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0006c0017t0001	a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 others(13): Show a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 a0002c0011t0001g0172 a0002c0014t0001g0173 a0002c0014t0001g0183 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0175 a0003c0004t0001g0198 a0003c0004t0001g0199 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0005t0001g0005 a0003c0005t0001g0217 a0006c0017t0001g0207	28	324	0.0864	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000	268	454	0.5903	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DCDC2C_chr2_3698575_3853008	3778886	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show HG01123.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0010 a0001c0005 a0005c0010	a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0010 a0005c0010t0013 a0005c0010t0019	a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0246 others(11): Show a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0246 a0001c0005t0001g0308 a0001c0005t0002g0129 a0001c0005t0002g0141 a0001c0005t0002g0307 a0001c0005t0005g0264 a0001c0005t0008g0169 a0001c0005t0008g0170 a0001c0005t0008g0176 a0001c0005t0010g0304 a0005c0010t0013g0241 a0005c0010t0019g0240	14	322	0.0435	0	c.102 others(6): Show c.1023+2T>C		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	9/10					chr2	TogoVar
DCLK2_chr4_150073445_150262438	150256193	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG01255.hp1 HG01255.hp2 others(3): Show HG00544.hp1 HG01255.hp1 HG01255.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0013	a0003c0004t0001g0049 a0003c0004t0001g0090 a0003c0004t0002g0010 others(3): Show a0003c0004t0001g0049 a0003c0004t0001g0090 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0003g0004 a0003c0004t0013g0038	6	114	0.0526	1	c.225 others(5): Show c.2250dupC	p.Ala others(5): Show p.Ala751fs	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	16/16	2834/4075	2251/2301	751/766	INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX49_chr19_18914715_18933630	18928221	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02717.hp1 HG04115.hp1 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0010 a0004c0007 a0004c0010	a0004c0007t0002 a0004c0010t0001 a0004c0010t0002 a0004c0007t0002 a0004c0010t0001 a0004c0010t0002	a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 others(2): Show a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 a0004c0010t0001g0001 a0004c0010t0002g0117	6	396	0.0152	0	c.135 others(4): Show c.1357C>T	p.Arg others(4): Show p.Arg453*	DDX49	ENSG00000105671.12	transcript	ENST00000247003.9	protein_coding	13/13	1384/1793	1357/1452	453/483		chr19	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(58): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0009 a0003c0003 a0003c0006 a0003c0009	a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001	a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 others(5): Show a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009	61	458	0.1332	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB128_chr20_182853_194711	189622	A A	T T	start_lost start_lost	HIGH	HG02896.hp1 NA18906.hp2 HG02896.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0011 a0004c0004t0001g0011	2	468	0.0043	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	DEFB128	ENSG00000185982.7	transcript	ENST00000334391.5	protein_coding	1/2	90/403	2/282	1/93		chr20	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show HG00642.hp1 HG01993.hp1 HG02074.hp1 HG02293.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03942.hp1 HG04204.hp1 NA18906.hp1 NA18948.hp1 NA19043.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0015 a0001c0002t0012 a0001c0003t0006 others(8): Show a0001c0001t0015 a0001c0002t0012 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0107 a0001c0003t0114 a0001c0006t0082 a0002c0005t0001 a0002c0005t0003	a0001c0001t0015g0166 a0001c0002t0012g0049 a0001c0003t0006g0262 others(10): Show a0001c0001t0015g0166 a0001c0002t0012g0049 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0008g0214 a0001c0003t0010g0197 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0107g0058 a0001c0003t0114g0029 a0001c0006t0082g0016 a0002c0005t0001g0268 a0002c0005t0003g0115	13	27	0.4815	10	c.623 others(22): Show c.623-12_623-3dupTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0017 others(2): Show a0002 a0006 a0017 a0018 a0019	a0002c0002 a0002c0005 a0002c0024 others(7): Show a0002c0002 a0002c0005 a0002c0024 a0002c0025 a0006c0008 a0006c0019 a0006c0029 a0017c0026 a0018c0021 a0019c0030	a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 a0002c0025t0001 a0006c0008t0001 a0006c0019t0001 a0006c0029t0001 a0017c0026t0001 a0018c0021t0001 a0019c0030t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0176 a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0166 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0170 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0024t0001g0148 a0002c0025t0001g0070 a0006c0008t0001g0018 a0006c0008t0001g0027 a0006c0008t0001g0099 a0006c0008t0001g0107 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0144 a0006c0019t0001g0143 a0006c0019t0001g0145 a0006c0029t0001g0003 a0017c0026t0001g0175 a0018c0021t0001g0068 a0019c0030t0001g0009	132	433	0.3049	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GTT GTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp1 HG02071.hp1 HG02257.hp2 others(3): Show HG01109.hp1 HG02071.hp1 HG02257.hp2 HG02717.hp1 HG02735.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0020 a0001c0008t0001	a0001c0001t0001g0084 a0001c0001t0002g0052 a0001c0002t0001g0016 others(3): Show a0001c0001t0001g0084 a0001c0001t0002g0052 a0001c0002t0001g0016 a0001c0002t0004g0015 a0001c0002t0020g0077 a0001c0008t0001g0008	6	89	0.0674	2	c.733 others(13): Show c.733-4_733-3dupTT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DPPA4_chr3_109321144_109342546	109337516	A A	G G	start_lost start_lost	HIGH	HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show HG01081.hp1 HG01175.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03453.hp2 NA18906.hp1 NA18952.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0009 others(1): Show a0003c0004 a0003c0006 a0003c0009 a0003c0010	a0003c0004t0002 a0003c0004t0004 a0003c0006t0002 others(2): Show a0003c0004t0002 a0003c0004t0004 a0003c0006t0002 a0003c0009t0002 a0003c0010t0005	a0003c0004t0002g0017 a0003c0004t0002g0025 a0003c0004t0002g0026 others(16): Show a0003c0004t0002g0017 a0003c0004t0002g0025 a0003c0004t0002g0026 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0053 a0003c0004t0002g0054 a0003c0004t0002g0055 a0003c0004t0002g0057 a0003c0004t0002g0059 a0003c0004t0002g0061 a0003c0004t0002g0063 a0003c0004t0004g0056 a0003c0006t0002g0027 a0003c0006t0002g0052 a0003c0006t0002g0058 a0003c0009t0002g0060 a0003c0010t0005g0062	25	414	0.0604	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	DPPA4	ENSG00000121570.13	transcript	ENST00000335658.7	protein_coding	1/7	31/2788	2/915	1/304		chr3	TogoVar
DPRX_chr19_53626999_53642014	53636914	G G	T T	stop_gained stop_gained	HIGH	HG00639.hp1 HG02280.hp1 HG02486.hp1 others(4): Show HG00639.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02976.hp1 NA18906.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0054 a0002c0002t0001g0055 others(2): Show a0002c0002t0001g0028 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0069 a0002c0002t0001g0071	7	476	0.0147	0	c.502 others(3): Show c.502G>T	p.Glu others(4): Show p.Glu168*	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding	3/3	610/710	502/576	168/191		chr19	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	163	402	0.4055	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0003c0027 a0004c0008 a0005c0009 a0006c0011 a0008c0019 a0009c0023 a0010c0031 a0011c0026 a0012c0029 a0013c0035 a0014c0021 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0003c0027t0008 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0005 a0006c0011t0007 a0008c0019t0002 a0009c0023t0001 a0010c0031t0003 a0011c0026t0003 a0012c0029t0005 a0013c0035t0011 a0014c0021t0002 a0015c0030t0005	a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0247 a0001c0001t0009g0024 a0001c0001t0009g0331 a0001c0001t0010g0278 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0003g0341 a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0001c0007t0013g0239 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0015t0010g0179 a0001c0015t0010g0246 a0002c0004t0001g0035 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0055 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0097 a0002c0004t0001g0249 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0003g0037 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0046 a0002c0004t0003g0049 a0002c0004t0003g0052 a0002c0004t0003g0053 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0285 a0002c0004t0015g0040 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0116 a0002c0005t0001g0117 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0136 a0002c0005t0001g0152 a0002c0005t0001g0155 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0189 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0241 a0002c0005t0003g0123 a0002c0005t0003g0145 a0002c0005t0003g0231 a0002c0005t0003g0240 a0002c0022t0001g0131 a0003c0016t0002g0206 a0003c0016t0002g0272 a0003c0027t0008g0236 a0004c0008t0001g0002 a0004c0008t0001g0232 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0004c0008t0001g0267 a0004c0008t0003g0207 a0005c0009t0001g0147 a0005c0009t0005g0012 a0005c0009t0005g0146 a0005c0009t0005g0148 a0005c0009t0005g0238 a0005c0009t0005g0274 a0006c0011t0007g0004 a0006c0011t0007g0029 a0006c0011t0007g0030 a0006c0011t0007g0031 a0008c0019t0002g0304 a0008c0019t0002g0327 a0009c0023t0001g0132 a0010c0031t0003g0248 a0011c0026t0003g0188 a0012c0029t0005g0137 a0013c0035t0011g0098 a0014c0021t0002g0183 a0015c0030t0005g0149	212	372	0.5699	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
DZANK1_chr20_18378367_18472030	18465378	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show HG00140.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG02071.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03704.hp1 NA18612.hp2 NA18906.hp2 NA18947.hp2 NA18954.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015 a0001c0020 a0002c0004 a0003c0012 a0003c0014 a0013c0035	a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 others(6): Show a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 a0001c0015t0004 a0001c0020t0001 a0002c0004t0001 a0003c0012t0001 a0003c0014t0001 a0013c0035t0011	a0001c0001t0002g0027 a0001c0001t0002g0262 a0001c0001t0002g0333 others(23): Show a0001c0001t0002g0027 a0001c0001t0002g0262 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0006t0001g0028 a0001c0007t0004g0022 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0020t0001g0023 a0002c0004t0001g0097 a0003c0012t0001g0254 a0003c0012t0001g0256 a0003c0014t0001g0251 a0003c0014t0001g0252 a0003c0014t0001g0253 a0003c0014t0001g0255 a0013c0035t0011g0098	30	371	0.0809	0	c.-19 others(5): Show c.-19-1G>T		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	1/20					chr20	TogoVar
ECD_chr10_73128668_73173008	73163951	CTA CTA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show HG01074.hp1 HG01346.hp2 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02809.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 others(5): Show a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046	9	270	0.0333	-2	c.-13 others(13): Show c.-13-3_-13-2delTA		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	1/13					chr10	TogoVar
EFCAB3_chr17_62375553_62421480	62395190	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp1 NA18906.hp1 NA19240.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107	3	368	0.0082	0	c.488 others(5): Show c.488+2T>C		EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	6/9					chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29941799	G G	A A	start_lost start_lost	HIGH	HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show HG00741.hp1 HG01243.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0013 others(1): Show a0003c0003 a0003c0006 a0003c0013 a0003c0014	a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 others(1): Show a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 a0003c0014t0002	a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(20): Show a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 a0003c0013t0002g0217 a0003c0014t0002g0006	23	246	0.0935	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	1/23	166/5103	3/4512	1/1503		chr17	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0006 a0004c0015 a0005c0010 a0005c0011 a0005c0014 a0006c0012 a0006c0016 a0006c0023 a0007c0009 a0008c0013 a0008c0017 a0009c0030 a0010c0024 a0011c0028 a0012c0027 a0013c0029 a0014c0019 a0015c0025 a0016c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0006t0004 a0004c0015t0004 a0005c0010t0011 a0005c0011t0001 a0005c0014t0011 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0009t0010 a0007c0009t0023 a0008c0013t0007 a0008c0017t0002 a0009c0030t0001 a0010c0024t0033 a0011c0028t0003 a0012c0027t0010 a0013c0029t0010 a0014c0019t0010 a0015c0025t0001 a0016c0020t0047	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0215 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0143 a0001c0001t0005g0148 a0001c0001t0005g0155 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0006 a0001c0001t0006g0041 a0001c0001t0006g0044 a0001c0001t0007g0111 a0001c0001t0007g0119 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0197 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0171 a0001c0001t0016g0039 a0001c0001t0017g0016 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0211 a0001c0001t0024g0140 a0001c0001t0024g0141 a0001c0001t0027g0064 a0001c0001t0028g0008 a0001c0001t0029g0004 a0001c0001t0037g0127 a0001c0001t0038g0180 a0001c0001t0040g0097 a0001c0001t0045g0200 a0001c0001t0046g0105 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0113 a0001c0002t0005g0134 a0001c0002t0005g0222 a0001c0002t0014g0136 a0001c0002t0014g0156 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0139 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0157 a0001c0002t0039g0108 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0126 a0001c0002t0049g0095 a0001c0002t0050g0225 a0001c0021t0002g0009 a0001c0026t0001g0203 a0002c0003t0001g0167 a0002c0003t0002g0007 a0002c0003t0003g0094 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0096 a0002c0003t0012g0214 a0002c0003t0012g0217 a0002c0003t0012g0220 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0216 a0002c0007t0002g0052 a0002c0007t0021g0077 a0002c0007t0030g0053 a0002c0007t0034g0076 a0002c0008t0001g0170 a0002c0008t0001g0221 a0002c0008t0016g0057 a0002c0008t0021g0079 a0002c0018t0035g0078 a0003c0004t0004g0086 a0003c0004t0004g0089 a0003c0004t0004g0150 a0003c0004t0004g0219 a0003c0004t0023g0158 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0027 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0029 a0003c0005t0013g0030 a0003c0005t0013g0032 a0004c0006t0004g0087 a0004c0006t0004g0138 a0004c0006t0004g0207 a0004c0006t0004g0208 a0004c0006t0004g0209 a0004c0006t0004g0210 a0004c0015t0004g0117 a0005c0010t0011g0071 a0005c0010t0011g0072 a0005c0010t0011g0080 a0005c0011t0001g0159 a0005c0011t0001g0160 a0005c0014t0011g0069 a0005c0014t0011g0070 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0151 a0006c0023t0002g0013 a0007c0009t0010g0049 a0007c0009t0010g0050 a0007c0009t0023g0202 a0008c0013t0007g0129 a0008c0013t0007g0130 a0008c0017t0002g0028 a0009c0030t0001g0188 a0010c0024t0033g0074 a0011c0028t0003g0122 a0012c0027t0010g0036 a0013c0029t0010g0037 a0014c0019t0010g0005 a0015c0025t0001g0102 a0016c0020t0047g0204	221	226	0.9779	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22					chr5	TogoVar
EPSTI1_chr13_42881388_42997241	42926429	G G	C C	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01243.hp1 HG02451.hp1 HG03471.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG03471.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0011 a0002c0004t0006 a0002c0004t0011	a0002c0004t0006g0240 a0002c0004t0006g0332 a0002c0004t0006g0333 others(1): Show a0002c0004t0006g0240 a0002c0004t0006g0332 a0002c0004t0006g0333 a0002c0004t0011g0051	4	350	0.0114	0	c.564 others(3): Show c.564C>G	p.Tyr others(4): Show p.Tyr188*	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/11	640/3106	564/924	188/307		chr13	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0017 a0019 a0020 a0021 a0022 a0024 a0025 a0026	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0004 a0005c0005 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0014 a0011c0015 a0012c0012 a0017c0027 a0019c0029 a0020c0034 a0021c0026 a0022c0030 a0024c0024 a0025c0033 a0026c0019	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0014t0001 a0011c0015t0001 a0012c0012t0002 a0017c0027t0001 a0019c0029t0001 a0020c0034t0002 a0021c0026t0008 a0022c0030t0001 a0024c0024t0001 a0025c0033t0001 a0026c0019t0001	a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0002g0139 a0002c0003t0002g0150 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0162 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0006t0002g0207 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0007t0003g0143 a0002c0007t0003g0144 a0002c0007t0003g0145 a0002c0007t0003g0146 a0002c0007t0003g0163 a0002c0007t0003g0164 a0002c0008t0004g0140 a0002c0008t0004g0147 a0002c0008t0004g0148 a0002c0008t0004g0149 a0002c0008t0004g0168 a0002c0008t0007g0161 a0002c0031t0006g0159 a0002c0032t0001g0204 a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0201 a0004c0004t0001g0013 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0030 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0005c0005t0001g0151 a0005c0005t0001g0152 a0005c0005t0001g0156 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0001g0160 a0005c0005t0001g0205 a0005c0005t0001g0206 a0006c0010t0001g0134 a0006c0010t0001g0135 a0006c0010t0001g0198 a0006c0010t0001g0199 a0006c0010t0001g0200 a0007c0009t0001g0016 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0001g0019 a0007c0009t0001g0020 a0008c0011t0002g0001 a0008c0011t0002g0048 a0008c0011t0002g0049 a0008c0025t0002g0133 a0009c0016t0005g0202 a0009c0016t0005g0203 a0010c0014t0001g0137 a0010c0014t0001g0138 a0011c0015t0001g0191 a0011c0015t0001g0192 a0012c0012t0002g0001 a0017c0027t0001g0120 a0019c0029t0001g0221 a0020c0034t0002g0136 a0021c0026t0008g0142 a0022c0030t0001g0014 a0024c0024t0001g0141 a0025c0033t0001g0187 a0026c0019t0001g0023	114	236	0.4831	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FER_chr5_108742897_109201841	108867763	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02559.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02559.hp2 HG02572.hp2 HG02886.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 a0001c0004t0023 a0001c0008t0012	a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 others(4): Show a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0080 a0001c0004t0023g0083 a0001c0008t0012g0081	7	136	0.0515	1	c.482 others(6): Show c.482-3dupC		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0007c0013 a0008c0019	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0007c0013t0002 a0008c0019t0006	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0003g0003 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0018 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0364 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0354 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0003g0209 a0002c0002t0004g0010 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0348 a0002c0002t0004g0350 a0002c0002t0004g0351 a0002c0002t0004g0352 a0002c0002t0004g0353 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0015 a0002c0015t0001g0181 a0003c0005t0001g0004 a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0072 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0338 a0003c0005t0001g0339 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0343 a0003c0007t0002g0344 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0337 a0004c0006t0001g0340 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0007c0013t0002g0222 a0008c0019t0006g0020	278	365	0.7616	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr6	TogoVar
FLG_chr1_152297165_152330239	152304352	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0005 a0008 a0009 others(21): Show a0005 a0008 a0009 a0022 a0023 a0024 a0029 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0096 a0103 a0110 a0124 a0125 a0126	a0005c0006 a0005c0132 a0008c0010 others(25): Show a0005c0006 a0005c0132 a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0029c0032 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0096c0166 a0103c0168 a0110c0067 a0124c0127 a0125c0167 a0126c0119	a0005c0006t0001 a0005c0132t0001 a0008c0010t0001 others(25): Show a0005c0006t0001 a0005c0132t0001 a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0029c0032t0001 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0096c0166t0001 a0103c0168t0001 a0110c0067t0001 a0124c0127t0001 a0125c0167t0001 a0126c0119t0002	a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 others(32): Show a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0029c0032t0001g0022 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0096c0166t0001g0118 a0103c0168t0001g0119 a0110c0067t0001g0116 a0124c0127t0001g0216 a0125c0167t0001g0115 a0126c0119t0002g0147	58	424	0.1368	0	c.105 others(5): Show c.10534C>T	p.Gln others(5): Show p.Gln3512*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10606/12793	10534/12186	3512/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152304887	C C	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.999 others(4): Show c.9999G>A	p.Trp others(5): Show p.Trp3333*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10071/12793	9999/12186	3333/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305571	G G	C C	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.931 others(4): Show c.9315C>G	p.Tyr others(5): Show p.Tyr3105*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9387/12793	9315/12186	3105/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305861	G G	A A	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.902 others(4): Show c.9025C>T	p.Arg others(5): Show p.Arg3009*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9097/12793	9025/12186	3009/4061		chr1	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0013 a0011c0014 a0012c0012 a0014c0020 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0022 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0013t0001 a0011c0014t0006 a0012c0012t0002 a0014c0020t0001 a0015c0021t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0010g0001 a0001c0001t0010g0013 a0001c0001t0013g0012 a0001c0001t0013g0048 a0001c0001t0013g0055 a0001c0001t0018g0066 a0001c0001t0019g0074 a0001c0001t0020g0076 a0001c0001t0021g0032 a0001c0015t0003g0049 a0001c0015t0003g0061 a0001c0015t0003g0068 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0028 a0002c0002t0004g0030 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0152 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0025g0028 a0002c0019t0004g0003 a0003c0003t0001g0157 a0003c0003t0002g0002 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0014g0002 a0003c0016t0002g0019 a0003c0016t0002g0161 a0004c0005t0003g0004 a0004c0005t0003g0027 a0004c0005t0003g0038 a0004c0005t0003g0112 a0004c0005t0003g0113 a0004c0005t0003g0116 a0004c0005t0003g0117 a0004c0005t0003g0120 a0004c0005t0003g0127 a0004c0008t0002g0036 a0004c0008t0002g0093 a0004c0008t0002g0095 a0004c0008t0002g0097 a0004c0008t0002g0126 a0004c0008t0002g0145 a0004c0008t0022g0046 a0004c0009t0004g0016 a0004c0009t0004g0035 a0004c0009t0004g0094 a0004c0009t0004g0096 a0005c0004t0003g0011 a0005c0004t0003g0018 a0005c0004t0003g0041 a0005c0004t0003g0042 a0005c0004t0003g0043 a0005c0004t0003g0136 a0005c0004t0003g0137 a0005c0004t0003g0138 a0005c0004t0003g0139 a0005c0004t0003g0141 a0005c0004t0003g0142 a0005c0004t0003g0143 a0005c0004t0003g0144 a0005c0004t0003g0146 a0005c0004t0003g0148 a0005c0004t0003g0149 a0005c0004t0008g0017 a0005c0004t0008g0029 a0005c0004t0008g0140 a0005c0004t0008g0147 a0006c0006t0006g0007 a0006c0006t0006g0037 a0006c0006t0006g0098 a0006c0006t0006g0099 a0006c0006t0006g0100 a0006c0006t0006g0101 a0006c0006t0006g0102 a0006c0006t0006g0103 a0006c0006t0006g0104 a0006c0006t0006g0106 a0006c0006t0006g0107 a0006c0006t0006g0108 a0006c0006t0006g0109 a0006c0006t0011g0007 a0006c0006t0011g0105 a0006c0006t0016g0025 a0009c0011t0002g0023 a0009c0011t0002g0092 a0010c0013t0001g0021 a0011c0014t0006g0078 a0011c0014t0006g0082 a0011c0014t0006g0083 a0012c0012t0002g0024 a0014c0020t0001g0164 a0015c0021t0002g0002	348	364	0.9560	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	174	0.4828	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417		chr9	TogoVar
FOXD4L5_chr9_65277101_65290209	65283162	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0012 a0001c0015 others(6): Show a0001c0001 a0001c0012 a0001c0015 a0005c0007 a0006c0008 a0008c0010 a0009c0014 a0010c0013 a0011c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0012t0001 a0001c0015t0001 a0005c0007t0009 a0006c0008t0001 a0008c0010t0001 a0009c0014t0001 a0010c0013t0001 a0011c0011t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(12): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0012t0001g0000 a0001c0015t0001g0000 a0005c0007t0009g0000 a0006c0008t0001g0000 a0008c0010t0001g0000 a0009c0014t0001g0000 a0010c0013t0001g0000 a0011c0011t0001g0000	55	80	0.6875	-1	c.121 others(5): Show c.1215delC	p.Trp others(5): Show p.Trp406fs	FOXD4L5	ENSG00000204779.2	transcript	ENST00000377420.1	protein_coding	1/1	2047/3109	1215/1251	405/416		chr9	TogoVar
FXR2_chr17_7586230_7619897	7614454	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0057 a0003c0007t0002g0057	1	424	0.0024	0	c.79A others(2): Show c.79A>T	p.Lys others(3): Show p.Lys27*	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	444/2987	79/2022	27/673		chr17	TogoVar
FXR2_chr17_7586230_7619897	7614455	G G	GAAAGGAA others(3): Show GAAAGGAAAAA	frameshift_variant frameshift_variant	HIGH	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0057 a0003c0007t0002g0057	1	424	0.0024	10	c.77_ others(15): Show c.77_78insTTTTTCCTTT	p.Lys others(4): Show p.Lys27fs	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	442/2987	77/2022	26/673		chr17	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	380	0.1211	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467		chr3	TogoVar
GAL3ST3_chr11_66035765_66054161	66043477	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp1 HG02145.hp2 HG02572.hp1 HG03669.hp2 NA18906.hp1 NA18954.hp2 NA18956.hp1 NA18982.hp2 NA18985.hp2 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19067.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0003 a0003	a0003c0005 a0003c0008 a0003c0013 others(2): Show a0003c0005 a0003c0008 a0003c0013 a0003c0015 a0003c0016	a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 others(5): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 a0003c0008t0005 a0003c0008t0021 a0003c0013t0004 a0003c0015t0005 a0003c0016t0003	a0003c0005t0001g0017 a0003c0005t0001g0062 a0003c0005t0002g0016 others(11): Show a0003c0005t0001g0017 a0003c0005t0001g0062 a0003c0005t0002g0016 a0003c0005t0002g0039 a0003c0005t0002g0051 a0003c0005t0002g0061 a0003c0005t0002g0063 a0003c0005t0005g0052 a0003c0008t0005g0026 a0003c0008t0005g0041 a0003c0008t0021g0042 a0003c0013t0004g0027 a0003c0015t0005g0043 a0003c0016t0003g0053	22	392	0.0561	1	c.325 others(4): Show c.325dupC	p.Arg others(5): Show p.Arg109fs	GAL3ST3	ENSG00000175229.7	transcript	ENST00000312006.5	protein_coding	3/3	588/3301	325/1296	109/431		chr11	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GNLY_chr2_85689358_85703852	85694429	G G	A A	stop_gained stop_gained	HIGH	HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show HG00735.hp2 HG01109.hp2 HG02572.hp1 HG02818.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0020 a0003c0003t0003g0007 a0003c0003t0003g0020	8	396	0.0202	0	c.11G others(2): Show c.11G>A	p.Trp others(2): Show p.Trp4*	GNLY	ENSG00000115523.17	transcript	ENST00000263863.9	protein_coding	1/5	72/777	11/438	4/145		chr2	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129472	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA20905.hp1	a0003 a0004 a0008 others(18): Show a0003 a0004 a0008 a0009 a0010 a0014 a0016 a0019 a0021 a0024 a0025 a0031 a0032 a0033 a0034 a0035 a0037 a0039 a0041 a0042 a0048	a0003c0003 a0003c0047 a0004c0004 others(21): Show a0003c0003 a0003c0047 a0004c0004 a0008c0009 a0009c0008 a0010c0017 a0010c0045 a0010c0050 a0014c0032 a0016c0012 a0019c0013 a0021c0025 a0024c0048 a0025c0044 a0031c0022 a0032c0053 a0033c0037 a0034c0042 a0035c0039 a0037c0057 a0039c0051 a0041c0055 a0042c0028 a0048c0027	a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 others(24): Show a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 a0004c0004t0003 a0008c0009t0001 a0009c0008t0003 a0009c0008t0006 a0010c0017t0006 a0010c0017t0009 a0010c0045t0006 a0010c0050t0009 a0014c0032t0022 a0016c0012t0010 a0019c0013t0003 a0021c0025t0003 a0024c0048t0002 a0025c0044t0003 a0031c0022t0003 a0032c0053t0019 a0033c0037t0006 a0034c0042t0003 a0035c0039t0003 a0037c0057t0009 a0039c0051t0010 a0041c0055t0003 a0042c0028t0003 a0048c0027t0002	a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(39): Show a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0033 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0018g0036 a0003c0047t0002g0040 a0004c0004t0003g0010 a0004c0004t0003g0050 a0004c0004t0003g0071 a0004c0004t0003g0084 a0008c0009t0001g0013 a0008c0009t0001g0123 a0009c0008t0003g0100 a0009c0008t0003g0102 a0009c0008t0006g0099 a0009c0008t0006g0101 a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 a0010c0050t0009g0108 a0014c0032t0022g0054 a0016c0012t0010g0024 a0019c0013t0003g0093 a0019c0013t0003g0097 a0021c0025t0003g0047 a0024c0048t0002g0034 a0025c0044t0003g0087 a0031c0022t0003g0044 a0032c0053t0019g0043 a0033c0037t0006g0075 a0034c0042t0003g0085 a0035c0039t0003g0052 a0037c0057t0009g0121 a0039c0051t0010g0114 a0041c0055t0003g0115 a0042c0028t0003g0049 a0048c0027t0002g0031	55	204	0.2696	0	c.198 others(4): Show c.1981C>T	p.Gln others(4): Show p.Gln661*	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	2072/3822	1981/2007	661/668		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(409): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCC ATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTC TGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG01243.hp1 HG01884.hp1 others(16): Show HG00621.hp1 HG01243.hp1 HG01884.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA18951.hp1	a0003 a0003	a0003c0004 a0003c0012 a0003c0004 a0003c0012	a0003c0004t0001 a0003c0012t0001 a0003c0004t0001 a0003c0012t0001	a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 others(2): Show a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088	19	110	0.1727	416	c.239 others(425): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTG GGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCAG GAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAA GATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(19): Show a0001 a0003 a0006 a0009 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0035	a0001c0001 a0001c0005 a0001c0010 others(44): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0006c0007 a0009c0018 a0009c0025 a0011c0022 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0006c0007t0001 a0009c0018t0010 a0009c0025t0010 a0011c0022t0015 a0011c0022t0016 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0009c0018t0010g0041 a0009c0025t0010g0119 a0011c0022t0015g0042 a0011c0022t0016g0043 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0035c0054t0001g0093	286	393	0.7277	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0005 a0001c0010 others(59): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0002c0002 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0004c0003 a0005c0006 a0005c0008 a0005c0031 a0006c0007 a0007c0009 a0009c0018 a0009c0025 a0009c0026 a0010c0016 a0011c0022 a0012c0019 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0017c0063 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0023c0033 a0024c0028 a0025c0030 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0033c0060 a0034c0032 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(82): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0017 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0004c0003t0002 a0004c0003t0005 a0004c0003t0006 a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0007 a0005c0008t0008 a0005c0008t0022 a0005c0031t0007 a0006c0007t0001 a0007c0009t0002 a0007c0009t0011 a0009c0018t0010 a0009c0025t0010 a0009c0026t0010 a0010c0016t0002 a0011c0022t0015 a0011c0022t0016 a0012c0019t0014 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0017c0063t0006 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0023c0033t0002 a0024c0028t0002 a0025c0030t0002 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0033c0060t0005 a0034c0032t0009 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0037 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0005g0025 a0002c0002t0006g0038 a0002c0002t0011g0036 a0002c0002t0017g0105 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0004c0003t0002g0008 a0004c0003t0002g0015 a0004c0003t0002g0029 a0004c0003t0002g0030 a0004c0003t0005g0110 a0004c0003t0006g0010 a0004c0003t0006g0047 a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0007g0114 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0008t0022g0115 a0005c0031t0007g0113 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0007c0009t0002g0016 a0007c0009t0011g0120 a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118 a0010c0016t0002g0026 a0011c0022t0015g0042 a0011c0022t0016g0043 a0012c0019t0014g0052 a0012c0019t0014g0053 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0017c0063t0006g0048 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0023c0033t0002g0049 a0024c0028t0002g0109 a0025c0030t0002g0111 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0033c0060t0005g0099 a0034c0032t0009g0079 a0035c0054t0001g0093	390	394	0.9898	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20534261	A A	G G	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0072 a0001c0001t0012g0072	1	212	0.0047	0	c.217 others(4): Show c.2173T>C	p.Ter others(11): Show p.Ter725Glnext*?	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	2264/4013	2173/2175	725/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0010 others(10): Show a0001 a0007 a0010 a0011 a0016 a0017 a0019 a0020 a0024 a0030 a0034 a0035 a0036	a0001c0001 a0001c0010 a0001c0031 others(19): Show a0001c0001 a0001c0010 a0001c0031 a0001c0032 a0001c0034 a0001c0043 a0007c0006 a0007c0047 a0010c0014 a0010c0015 a0011c0012 a0011c0026 a0016c0017 a0017c0036 a0017c0037 a0019c0021 a0020c0035 a0024c0051 a0030c0033 a0034c0041 a0035c0042 a0036c0038	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0010t0001 a0001c0031t0001 a0001c0032t0001 a0001c0034t0001 a0001c0043t0001 a0007c0006t0001 a0007c0006t0004 a0007c0006t0024 a0007c0047t0013 a0010c0014t0007 a0010c0015t0009 a0011c0012t0007 a0011c0026t0007 a0016c0017t0004 a0017c0036t0001 a0017c0037t0001 a0019c0021t0007 a0020c0035t0018 a0024c0051t0004 a0030c0033t0001 a0034c0041t0001 a0035c0042t0001 a0036c0038t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0004g0006 a0001c0001t0004g0062 a0001c0001t0004g0086 a0001c0001t0012g0072 a0001c0001t0015g0070 a0001c0001t0016g0071 a0001c0001t0017g0087 a0001c0001t0020g0074 a0001c0010t0001g0010 a0001c0031t0001g0068 a0001c0032t0001g0073 a0001c0034t0001g0076 a0001c0043t0001g0081 a0007c0006t0001g0107 a0007c0006t0004g0027 a0007c0006t0004g0105 a0007c0006t0004g0109 a0007c0006t0004g0116 a0007c0006t0024g0108 a0007c0047t0013g0115 a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 a0011c0012t0007g0012 a0011c0026t0007g0051 a0016c0017t0004g0083 a0016c0017t0004g0084 a0017c0036t0001g0066 a0017c0037t0001g0067 a0019c0021t0007g0033 a0020c0035t0018g0082 a0024c0051t0004g0117 a0030c0033t0001g0060 a0034c0041t0001g0079 a0035c0042t0001g0080 a0036c0038t0001g0063	94	212	0.4434	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724		chr15	TogoVar
GOLGA8G_chr15_28514611_28537971	28521486	AGCTTTCC others(4921): Show AGCTTTCCTTCACTCTAATTCATTCTTGACTAGAGCCTGTATGCCTGTTC CAGGGACATTTGAACTCTTAAAGGATTTCTTATGATCTTTACTAAATACA TTAAGAAGAATGCCAACCAGTGCCCTTTTGTGTACTGGGACATGCAGTCA TGTGATTAAAACAGGTAACATGAACTCTGACTTTAAAATATAGATACAAA TGCTCTAAGCTAGGAAAGGTTTTCCACAACCGTAGTCAATGATGGGAACC TTTCATTCCTCAGAAATAAGCCCTTTTTAGGTCATCAAAAAAGAGTACAA CTGCTGAAGCTCATGATGCAATATCTTCATGAGCCCAGAGCACATACAAA TCCTAAAGGAACTACAATAGTACAGCACTAATTCTTGGCAACAGAACAAA TGAAACACACTCTATCTTGCACATACCTGCCAGAGCAGGCAACTTTCCTC TTCTGTGAAATTTAAAAAGCTCCCCCAAAATGTTATTACTCCCATCACCA ATACACAGAAAATGAGGAAAAGGCTGTTTCCAGTTCTCGGCCTTTAAACA ACTCTAAATGTCAGTACTCTTGGTGGCATATTACAAAGTATTAAATAGTG CACACTTGGGGCAAACCACATATTGTGCTAATGAAGAGCTCACTGTGATT AAGATTAGATCAAACAACAGCAGAACATAGGCACATTTTATCTGAATTCT GTAATGAATATACATGCTGCAATAACATTAAAAACACATGGCAGCCTATT CCAAACCAGCAAGAATAGTTTTGTGCAAATAGTGGGTCTTTGTGTGTTTG AACTCCCACCACGTAAGGGCAAACTCAATATGCATGCTAATGACCTACAA TTATGAAATTGAAAAAGAAAATTGCGAAAGTATGCCAGAGTGAACATCAG TGAAAGCCACAGAGACCCACTCTCTTTTAACTATTTACAAATGAACTTAA ACTATAAATTAGAAACACAAATAATCATAAGTGGCTATAACATTCAAATG AAGTAAATGAATTGTGTAGGAGATTAACCCCATAACTTTGTTTCTTTTTT AAAAATTTCTTCAGCAGCTCTTTGACGATGGTGATGTTTATCTCCTTCTT CTTGGCAGCCAAGCCCAGCAAAAGAATGGCACACAGCAGTTGCTGCCCAA GCCTGGGTGCTCCTGGTGGTCCTGCACGATCGGCTGTGCAGTAGGGTTGT CGTGGGGAGAACCCTCCCTGGCCTCTCCTTGCACAGGCTCCACGCTGTCA GTGAGGCTCACCTCACAAAGATCTTTGGAGAGAGGGAGGCGGGGATCTGA GCTCAGTGAGAGCCCCCCTGCTCCTGCCTGCCCACCCCGCCTGAGGGCTC TACTCACCACCATGCTTGTGGGCAGCCCCAAGCTCCTGGGGGGCTGGGGC TCCTGGACTGGGCTCATGAGCAGGGTTCTGGGCAGTCACCAAGAATTTGC TGTGTCCCTTGTAGTCGCCACCAGCTGCAACACCATCTCCTGCAGCTCCA GCAGCTTCACCTGGAGGGAGGGGTGCTCAGCTGTCACGCTGCTGCCAGCG CTCACCGTCACAGCCACCCCCACCCCCGCAGAGATGTTGCACACTCTACC TTCATCTCCTCCCTGTCCAGGGCCAGCCTGATGGTGTCCTCCTCCCGGTG CTGCATCTTTGGCACTGCCCCCTGGCTTTGTTATAGGGTGATAAACTTTC CTGCGGGAGGACAGGGCTCAGACGCTGGGGCCCCTCCAACAGCCCTGCAG CTCCCCCTGCCATGCCCTGGCCTCCCACTCACTGATGGCATCTCTCTCTG TAGTACTGGAAGAATCCAAGTTCTTCTTTCTCCACCAGCTCACTCAGGTC TGCCTTCTCCTCCAGGTGGTCCATAAAGCCGCTCTGGAGCCAAAATAATG GGGTCACATCTCGCCAGCGACCTGCCCTCAGGTGGCATTTTCAAGTCATG GAGAAGGCGGAGGTGAGTTCCGGCATGGGCCAGCTTCTCCGTGACTTCCT GCAGGGCCCGGTGGGTCTCCCCACTCACAGACTCGCCCCCAGGCCCTGGG GCTCCAGGGCCTCTGGCTGCCTCTGGCTCCTTCTGGGCCGAGGCCACCGG GTGAGCCAGGCGCTGGCAGCACACCCTCTGCTCTTTCACCTGCTCTTGTA ACTGTGCCTGCTTCTCCTGGGCACTAGCTCCAGCGGACTTGAAAAATGCC ACCTGAGGGCAAGATGTGAGCATTCTTGCAGGGGCATACACAGAACAAAT GGGGCAGAGAGGTGGAGCGCAGCCCCTTCCCTTGGGGCCCCAGAGACTGC ACATGTTGGTCACAGGTGAAATGGTGTCTGACCACTGGCTCCCAGAAGGG GTGAGGGTCCAGAGAAATCAGAAGGCAGGGAAACGAAGAGCATAAAGGGG TCTTGGAGGGACCACAGAGGAAGGAGGCAAAATGGGTTCAGGTGGAGTCA GGCTTACCATGGCCTCCCTGCTCTCCAGGTCCTGTGGGATGCTAGGAATG GGCCGAGGTGCCTCCTCCCCCTCACTGTCCAGATGTCCTCCTCCATCTCC TGGGGGTGGGGGTGGTGGCCAGAGGGGTCCTCAGACAACTCAACAAGGGA AGTATTGTGGGCCCACCTCTGCCTCCACCCTCATTGTGTAACCCTGAGCC AGGCCCTCCCCAGAGAGGAATGAGCTGCTGTTATTTATTTTTACTTTGAA GAACCAAGATCTTGCTATACTGCCCAGGCACATTCCCACTACTGGTCGGT GCGGGAGTTCTGACCTGCTCCCTTTCTGACCTCGGCCAGTTCAGCCATCC TTAGGCAACTTGGTGGCCCCCCGCTCACAGGAGGTCACCATATTGATGCT GAACTTAGTGCAGGCACCCGGTTAGTATAATGACCAGCTGTTCTAAAGGT CTCTTCCAACTCCTCAATCCTATGCTGCTAGCAGTCCCCCCTTCCTCCTG GGGCTCTCTCCTCTTCCTCTGAGCGGTCTCCCGTACCTTCCCCAGGGAGA GCCATGAGGCTCAACTGGGCCGTTAGCTGCTGTTTCTGCTGGCTCGCAGC TTCCAGACGCTCCTAAGGGGCCAGGAAAGAGTGAGAAGGCACAGAGTTTG CCAGGTCGTCCCCCTCACAGCCCCATCCTCGGCAGCTCCCTCCCCTGGGT CTCCTGCAACTTTTGGCAGGCCATCTCGGCCACCGCTTTGCCCCAAGCTT CCTGCTGCTGCAACTGGTTCATTAGCTGGGTCTGCTGCAGTCACTGCCTG TACAGCGCCTCCTTCTCACAGGTCAGCTGCTGATAGGCGGCCACCTGCTG CTGATAGGTGGCCACGTACTGCTGCAGGTGACCCAGGTAATGGTCTGGCT GCTGCTGCAGACTCTGAGCCTCTTGGCTCTTCAGCTCCACCTGCAGGAAG ACCCTGGGTGTGAGGGCACGTGGTGGCTGGTTTGCAGATTCTGGGCCCAT TAATAGGGTAGCGAGGGCACTGTGGGGCTCTGTCGCCTGCCCAGGCCCCT GGCCCCTTACTTCAGGCCTAAGTGACTGCCTTGCTTTCCTAGAACCCCAT GCCTCCTTCCCCAGCCTCAAATCTCATGTCCTCTTCCCACCATTTCAACT GTAGGCCACAGAATGGTAGAAAAGTATGGGAGCCAACCACCATCTGCTAA ATGTGCTACAGGCCTAATGCTTCCCATGTATTATCTCATTTAATCCTCAG CACCTCTGTAAGGAAAATGCTAACTTCCTTTTGAAGTTAAAGAAACAGAG ACTTAGAGATGCGAAGTACTTGAATGGTGACCAGTGGAACTGAGGCTGGA ATCCAGTTTTAATCTAAGGAGTCTTTTTGTTTTGTTTTGAGACAGAGTGT CACTCTGTGGCCCAGGCAGGAGTGCAGTGGTGCAATCTCAGCTCACTGCA ACCTCCACCTCCTGGGCTCAAGCAATTCTCGTGCCTCAGCCTCCTGAGTA GGTGGGATTACAGGCATGCGCCACCACCATGCCCCACTAATTTTTCTTTC TTTTTTTGTTTTTTGTTTTTGTAATTTTAGTAGAGATGAGGTTTTACCAT GTTGGCCAGGCTGATCTCAAACTCCAAACCTCAAGTGATTCTCCTGCCTC AGCCTCCCAAAGTGTTGGCACTATAGGCGTAAGCCACCGCATCTGGCATA AGAAGACTGTTATACCACTCTGTCTCTTCCCCTGTGATTGGGGGGGCTCC ATGTCTCTAGCTGGAATGATGATGTCCAGACCTGGGAGGAGCCCAGGGCT ACCCACCTCTAAAATCAGAGGGCAGGAAGCAAGAAACAGCCACAGGACTG CCCTGGAGGGTGCTGGGGTCACCTGCCCCCGGGCTGGAGCTACCGCTGGC CTGGCACCTCCCCTCCCCAGAGGCTGGTGCCCACCCACCTCCCAGACCTT CTTGGATGGGGTGGAGGTTACCGTCTCCTTCACCTTGCCTAGCTTCTCCT GCAGCTCCTTTACTTGCTGCTCCAACTGTAGTACGCTCTTGTTCTCATTG TTCTGGACAGAGAGAAGCAATCAGCAGCCACCCACTGCAGCTGGAGACCC CAGAACTTGGTGACTGCCTCCCATGGCACCGGGAAGGGTGGAGGCAGGTT AGAAAAATCATCCCCTGTCTCCCACAGCCACCAGAGCAGGGCTCTGGCTC ACAGGTGCCTTTAGGAGTAACATTTCACTTGAGGGCTACACTGCCCCATT TTATAGGTGGGGAAACAAAGGCCTGGAGGGCTAGGGAGGAGGGCAAGCTC CCCAGCTGGGGCAACGCACCAGCTCCTTGAAGCTGTTCTGTGGCTCGGCC AGCTGCTGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTCCTG AAGCCTCTCCTCCTGCTCCCGAAGCCTCTCCTTTTGCCCCTCATTCAGGA GACTTATGCGCTGATTGTACTCCACCTGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG02809.hp2 HG03139.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0004 a0003c0003t0008 a0003c0014t0004 a0003c0003t0004 a0003c0003t0008 a0003c0014t0004	a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020 a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020	5	100	0.0500	-4928	c.101 others(10): Show c.1011_*1086del		GOLGA8G	ENSG00000183629.14	transcript	ENST00000525590.3	protein_coding	18/19	3095/4971				chr15	TogoVar
GPATCH1_chr19_33076181_33135542	33088112	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01928.hp2 NA18906.hp2 NA18956.hp2 others(3): Show HG01928.hp2 NA18906.hp2 NA18956.hp2 NA18963.hp1 NA19002.hp2 NA19005.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0003c0023 a0002c0002 a0003c0004 a0003c0023	a0002c0002t0001 a0003c0004t0001 a0003c0004t0004 others(1): Show a0002c0002t0001 a0003c0004t0001 a0003c0004t0004 a0003c0023t0001	a0002c0002t0001g0183 a0002c0002t0001g0211 a0002c0002t0001g0212 others(3): Show a0002c0002t0001g0183 a0002c0002t0001g0211 a0002c0002t0001g0212 a0003c0004t0001g0127 a0003c0004t0004g0132 a0003c0023t0001g0220	6	195	0.0308	1	c.74- others(5): Show c.74-3dupT		GPATCH1	ENSG00000076650.7	transcript	ENST00000170564.7	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.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 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	425	446	0.9529	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar

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