Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PSG1_chr19_42861464_42884713	42868882	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp2 HG01975.hp2 HG02738.hp1 NA18971.hp2 NA18988.hp1 NA19010.hp2 NA20805.hp2	a0004 a0006 a0017 a0004 a0006 a0017	a0004c0005 a0006c0007 a0017c0035 a0004c0005 a0006c0007 a0017c0035	a0004c0005t0001 a0006c0007t0001 a0017c0035t0001 a0004c0005t0001 a0006c0007t0001 a0017c0035t0001	a0004c0005t0001g0038 a0004c0005t0001g0039 a0004c0005t0001g0090 others(11): Show a0004c0005t0001g0038 a0004c0005t0001g0039 a0004c0005t0001g0090 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0116 a0004c0005t0001g0117 a0004c0005t0001g0123 a0006c0007t0001g0024 a0006c0007t0001g0088 a0006c0007t0001g0091 a0006c0007t0001g0136 a0017c0035t0001g0122	18	406	0.0443	0	c.862 others(3): Show c.862C>T	p.Arg others(4): Show p.Arg288*	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding	4/6	994/2062	862/1260	288/419			chr19	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 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 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.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 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419			chr19	TogoVar
PSORS1C1_chr6_31109800_31145092	31138723	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG00642.hp1 HG00733.hp1 others(31): Show HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01192.hp2 HG01257.hp1 HG01358.hp1 HG01884.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02280.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03471.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA19005.hp1 NA19080.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0004 a0003c0003t0009 a0003c0003t0011 others(5): Show a0003c0003t0004 a0003c0003t0009 a0003c0003t0011 a0003c0003t0012 a0003c0003t0016 a0003c0009t0001 a0003c0009t0006 a0003c0009t0007	a0003c0003t0004g0058 a0003c0003t0004g0059 a0003c0003t0004g0213 others(23): Show a0003c0003t0004g0058 a0003c0003t0004g0059 a0003c0003t0004g0213 a0003c0003t0004g0227 a0003c0003t0004g0229 a0003c0003t0004g0230 a0003c0003t0004g0231 a0003c0003t0004g0232 a0003c0003t0004g0233 a0003c0003t0004g0234 a0003c0003t0009g0033 a0003c0003t0009g0061 a0003c0003t0009g0068 a0003c0003t0009g0071 a0003c0003t0009g0244 a0003c0003t0009g0247 a0003c0003t0011g0117 a0003c0003t0011g0126 a0003c0003t0011g0160 a0003c0003t0012g0031 a0003c0003t0012g0261 a0003c0003t0012g0262 a0003c0003t0016g0066 a0003c0009t0001g0102 a0003c0009t0006g0049 a0003c0009t0007g0266	34	391	0.0870	-1	c.118 others(4): Show c.118delC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	438/939	118/459	40/152		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSORS1C2_chr6_31132534_31144066	31138080	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01192.hp2 others(8): Show HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01981.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG04184.hp1 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0011 a0004c0004t0002 a0004c0004t0011	a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 others(2): Show a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 a0004c0004t0002g0082 a0004c0004t0011g0081	11	460	0.0239	-1	c.281 others(4): Show c.281delC	p.Pro others(4): Show p.Pro94fs	PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding	2/2	321/868	281/411	94/136			chr6	TogoVar
PTPN23_chr3_47376021_47418435	47410831	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show HG00140.hp2 HG00597.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01496.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02135.hp2 HG02976.hp1 HG03516.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18951.hp1 NA18977.hp1 NA18987.hp2 NA18988.hp2 NA19000.hp1 NA19005.hp1 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19090.hp1	a0005 a0006 a0005 a0006	a0005c0007 a0005c0010 a0005c0028 others(6): Show a0005c0007 a0005c0010 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0015 a0006c0022 a0006c0038	a0005c0007t0001 a0005c0010t0001 a0005c0028t0001 others(6): Show a0005c0007t0001 a0005c0010t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0015t0001 a0006c0022t0001 a0006c0038t0001	a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 others(31): Show a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0012 a0005c0010t0001g0041 a0005c0010t0001g0053 a0005c0010t0001g0079 a0005c0010t0001g0089 a0005c0010t0001g0116 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0015t0001g0138 a0006c0015t0001g0208 a0006c0022t0001g0186 a0006c0038t0001g0176	36	329	0.1094	1	c.304 others(5): Show c.3040dupC	p.Leu others(6): Show p.Leu1014fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3117/5237	3041/4911	1014/1636		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPN23_chr3_47376021_47418435	47411089	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0010 a0013 a0015 a0016 a0020	a0002c0004 a0002c0008 a0002c0009 others(17): Show a0002c0004 a0002c0008 a0002c0009 a0002c0012 a0002c0016 a0002c0030 a0002c0031 a0004c0003 a0004c0025 a0005c0007 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0038 a0010c0036 a0013c0018 a0015c0043 a0016c0021 a0020c0024	a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 others(18): Show a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0009t0001 a0002c0012t0001 a0002c0016t0001 a0002c0030t0001 a0002c0031t0001 a0004c0003t0001 a0004c0025t0001 a0005c0007t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0038t0001 a0010c0036t0001 a0013c0018t0001 a0015c0043t0001 a0016c0021t0001 a0020c0024t0001	a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0037 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0058 a0002c0004t0001g0060 a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0081 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0094 a0002c0004t0001g0100 a0002c0004t0001g0118 a0002c0004t0001g0120 a0002c0004t0001g0219 a0002c0004t0001g0240 a0002c0008t0001g0004 a0002c0008t0001g0007 a0002c0008t0001g0113 a0002c0008t0001g0222 a0002c0008t0001g0225 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0003g0235 a0002c0009t0001g0006 a0002c0009t0001g0009 a0002c0009t0001g0125 a0002c0009t0001g0128 a0002c0009t0001g0130 a0002c0009t0001g0131 a0002c0009t0001g0139 a0002c0009t0001g0141 a0002c0012t0001g0005 a0002c0012t0001g0103 a0002c0012t0001g0104 a0002c0012t0001g0107 a0002c0012t0001g0121 a0002c0016t0001g0154 a0002c0016t0001g0161 a0002c0030t0001g0004 a0002c0031t0001g0133 a0004c0003t0001g0003 a0004c0003t0001g0015 a0004c0003t0001g0024 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0127 a0004c0003t0001g0142 a0004c0003t0001g0156 a0004c0003t0001g0158 a0004c0003t0001g0162 a0004c0003t0001g0163 a0004c0003t0001g0166 a0004c0003t0001g0167 a0004c0003t0001g0169 a0004c0003t0001g0172 a0004c0003t0001g0179 a0004c0003t0001g0183 a0004c0003t0001g0187 a0004c0003t0001g0189 a0004c0003t0001g0194 a0004c0003t0001g0195 a0004c0003t0001g0196 a0004c0003t0001g0200 a0004c0003t0001g0209 a0004c0003t0001g0212 a0004c0003t0001g0213 a0004c0003t0001g0214 a0004c0003t0001g0216 a0004c0003t0001g0238 a0004c0025t0001g0191 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0038t0001g0176 a0010c0036t0001g0003 a0013c0018t0001g0030 a0015c0043t0001g0239 a0016c0021t0001g0174 a0020c0024t0001g0190	135	330	0.4091	1	c.329 others(5): Show c.3296dupC	p.Arg others(6): Show p.Arg1100fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3373/5237	3297/4911	1099/1636		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRQ_chr12_80439235_80685273	80484408	T T	TTTTC TTTTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show HG00438.hp1 HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02148.hp1 HG02717.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18977.hp2 NA18984.hp2 NA18991.hp1 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2	a0003 a0005 a0010 others(14): Show a0003 a0005 a0010 a0012 a0013 a0014 a0017 a0028 a0038 a0044 a0045 a0046 a0050 a0056 a0057 a0060 a0063	a0003c0004 a0005c0003 a0005c0079 others(16): Show a0003c0004 a0005c0003 a0005c0079 a0010c0007 a0012c0017 a0012c0069 a0013c0012 a0014c0020 a0017c0027 a0028c0074 a0038c0038 a0044c0039 a0045c0071 a0046c0046 a0050c0073 a0056c0067 a0057c0070 a0060c0072 a0063c0080	a0003c0004t0005 a0005c0003t0001 a0005c0003t0002 others(20): Show a0003c0004t0005 a0005c0003t0001 a0005c0003t0002 a0005c0079t0001 a0010c0007t0002 a0010c0007t0004 a0012c0017t0002 a0012c0017t0004 a0012c0069t0005 a0013c0012t0001 a0014c0020t0001 a0017c0027t0001 a0017c0027t0004 a0028c0074t0002 a0038c0038t0004 a0044c0039t0003 a0045c0071t0003 a0046c0046t0003 a0050c0073t0003 a0056c0067t0002 a0057c0070t0001 a0060c0072t0002 a0063c0080t0003	a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 others(31): Show a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 a0005c0003t0002g0104 a0005c0003t0002g0106 a0005c0003t0002g0109 a0005c0003t0002g0110 a0005c0003t0002g0112 a0005c0003t0002g0113 a0005c0079t0001g0111 a0010c0007t0002g0168 a0010c0007t0002g0169 a0010c0007t0002g0170 a0010c0007t0004g0164 a0012c0017t0002g0093 a0012c0017t0002g0100 a0012c0017t0004g0098 a0012c0069t0005g0092 a0013c0012t0001g0047 a0013c0012t0001g0067 a0013c0012t0001g0086 a0014c0020t0001g0090 a0017c0027t0001g0097 a0017c0027t0004g0095 a0028c0074t0002g0099 a0038c0038t0004g0041 a0044c0039t0003g0156 a0045c0071t0003g0131 a0046c0046t0003g0089 a0050c0073t0003g0096 a0056c0067t0002g0004 a0057c0070t0001g0102 a0060c0072t0002g0132 a0063c0080t0003g0103	34	176	0.1932	4	c.118 others(17): Show c.1187-6_1187-3dupTCTT		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	8/44					INFO_REALIGN_3_PRIME	chr12	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0020 a0008c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0020t0001 a0008c0023t0002	a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0005g0289 a0001c0002t0001g0220 a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0129 a0001c0002t0003g0169 a0001c0002t0003g0175 a0001c0002t0003g0188 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0003t0002g0007 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0005 a0001c0005t0002g0015 a0001c0005t0002g0041 a0001c0005t0002g0194 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0201 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0006t0001g0160 a0001c0006t0002g0011 a0001c0006t0002g0034 a0001c0006t0002g0049 a0001c0006t0002g0132 a0001c0006t0002g0140 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0001c0006t0002g0174 a0001c0006t0002g0178 a0001c0006t0002g0200 a0001c0006t0002g0250 a0001c0006t0002g0271 a0001c0006t0002g0272 a0001c0007t0001g0282 a0001c0007t0002g0052 a0001c0007t0002g0274 a0001c0007t0002g0275 a0001c0007t0002g0276 a0001c0007t0002g0280 a0001c0007t0002g0281 a0001c0007t0002g0283 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0009t0002g0057 a0001c0009t0002g0058 a0001c0009t0002g0064 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0056 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0043 a0001c0017t0002g0078 a0001c0021t0002g0278 a0002c0004t0001g0029 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0262 a0002c0008t0001g0025 a0002c0008t0001g0026 a0002c0008t0001g0065 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0020 a0003c0010t0002g0060 a0003c0010t0003g0021 a0003c0010t0003g0022 a0003c0010t0003g0059 a0003c0010t0003g0061 a0003c0019t0002g0269 a0004c0011t0002g0035 a0004c0011t0002g0166 a0004c0011t0002g0167 a0004c0022t0002g0277 a0005c0013t0002g0008 a0007c0020t0001g0279 a0008c0023t0002g0287	253	388	0.6521	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19						chr14	TogoVar
R3HDM1_chr2_135526484_135730269	135724075	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show HG00621.hp1 HG01175.hp2 HG01192.hp1 HG02056.hp2 HG02080.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG03516.hp1 HG04115.hp2 NA18947.hp1 NA19077.hp1	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0012	a0005c0006 a0006c0005 a0007c0007 others(1): Show a0005c0006 a0006c0005 a0007c0007 a0012c0011	a0005c0006t0001 a0005c0006t0003 a0006c0005t0001 others(3): Show a0005c0006t0001 a0005c0006t0003 a0006c0005t0001 a0006c0005t0006 a0007c0007t0001 a0012c0011t0001	a0005c0006t0001g0010 a0005c0006t0001g0022 a0005c0006t0001g0126 others(9): Show a0005c0006t0001g0010 a0005c0006t0001g0022 a0005c0006t0001g0126 a0005c0006t0003g0043 a0006c0005t0001g0042 a0006c0005t0001g0072 a0006c0005t0001g0097 a0006c0005t0006g0065 a0007c0007t0001g0170 a0007c0007t0001g0180 a0007c0007t0001g0185 a0012c0011t0001g0229	12	229	0.0524	1	c.319 others(5): Show c.3193dupC	p.Leu others(6): Show p.Leu1065fs	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	27/27	3593/4781	3194/3405	1065/1134		INFO_REALIGN_3_PRIME	chr2	TogoVar
RBMXL2_chr11_7083998_7096148	7089456	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show HG00621.hp1 HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18956.hp1 NA18976.hp1 NA18978.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19090.hp2 NA20129.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0004 a0003c0005 a0003c0011 others(4): Show a0003c0004 a0003c0005 a0003c0011 a0003c0016 a0003c0017 a0005c0008 a0008c0015	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(9): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0005t0001 a0003c0011t0001 a0003c0016t0003 a0003c0017t0001 a0005c0008t0002 a0005c0008t0006 a0008c0015t0001	a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 others(9): Show a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 a0003c0004t0004g0000 a0003c0004t0005g0000 a0003c0005t0001g0000 a0003c0011t0001g0000 a0003c0016t0003g0000 a0003c0017t0001g0000 a0005c0008t0002g0000 a0005c0008t0006g0000 a0008c0015t0001g0000	42	458	0.0917	1	c.341 others(4): Show c.341dupG	p.Gly others(5): Show p.Gly115fs	RBMXL2	ENSG00000170748.7	transcript	ENST00000306904.7	protein_coding	1/1	465/2151	342/1179	114/392		INFO_REALIGN_3_PRIME	chr11	TogoVar
RFPL1_chr22_29433583_29447455	29441895	C C	T T	stop_gained stop_gained	HIGH	HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show HG00642.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18982.hp1 NA18983.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20805.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0012 a0006c0009 a0003c0003 a0003c0012 a0006c0009	a0003c0003t0003 a0003c0012t0003 a0006c0009t0003 a0003c0003t0003 a0003c0012t0003 a0006c0009t0003	a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0012t0003g0020 a0006c0009t0003g0009	35	442	0.0792	0	c.727 others(3): Show c.727C>T	p.Gln others(4): Show p.Gln243*	RFPL1	ENSG00000128250.5	transcript	ENST00000354373.2	protein_coding	2/2	936/1496	727/954	243/317			chr22	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0016	a0002c0002 a0002c0008 a0002c0019 others(16): Show a0002c0002 a0002c0008 a0002c0019 a0002c0021 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0011c0023 a0012c0020 a0013c0016 a0014c0017 a0016c0026	a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 a0002c0021t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0011c0023t0001 a0012c0020t0001 a0013c0016t0001 a0014c0017t0001 a0016c0026t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0144 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0001g0224 a0002c0008t0001g0009 a0002c0008t0001g0173 a0002c0008t0001g0174 a0002c0008t0001g0184 a0002c0008t0001g0188 a0002c0019t0001g0225 a0002c0021t0001g0003 a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0024 a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0197 a0003c0009t0001g0002 a0003c0009t0001g0010 a0003c0009t0001g0122 a0003c0012t0001g0034 a0003c0012t0001g0107 a0003c0012t0001g0110 a0003c0015t0001g0002 a0005c0006t0001g0028 a0005c0006t0001g0043 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0083 a0005c0006t0001g0086 a0005c0006t0001g0089 a0005c0006t0001g0169 a0005c0006t0001g0177 a0005c0006t0001g0198 a0005c0006t0001g0215 a0005c0006t0001g0216 a0005c0006t0001g0217 a0005c0006t0001g0218 a0005c0007t0001g0013 a0005c0007t0001g0029 a0005c0007t0001g0078 a0005c0007t0001g0080 a0005c0007t0001g0081 a0005c0007t0001g0163 a0005c0007t0001g0209 a0005c0007t0001g0210 a0005c0007t0001g0211 a0005c0007t0001g0214 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0001g0234 a0007c0011t0001g0053 a0007c0011t0001g0058 a0007c0011t0001g0061 a0007c0011t0001g0062 a0007c0011t0001g0090 a0007c0011t0001g0152 a0007c0014t0001g0028 a0007c0014t0001g0149 a0008c0010t0001g0020 a0008c0010t0001g0189 a0008c0010t0001g0212 a0008c0010t0001g0220 a0008c0022t0001g0181 a0011c0023t0001g0014 a0012c0020t0001g0221 a0013c0016t0001g0141 a0014c0017t0001g0033 a0016c0026t0001g0003	231	436	0.5298	1	c.127 others(5): Show c.1271dupC	p.Asp others(5): Show p.Asp425fs	RHBG	ENSG00000132677.13	transcript	ENST00000537040.6	protein_coding	9/10	1311/1790	1272/1377	424/458		INFO_REALIGN_3_PRIME	chr1	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0004c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0004c0006t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0002c0012t0002g0113 a0003c0005t0002g0107 a0003c0005t0002g0228 a0003c0005t0002g0229 a0004c0006t0001g0256 a0006c0009t0001g0163	101	227	0.4449	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
SBK2_chr19_55523611_55542133	55530084	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(32): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG01074.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01928.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02572.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03209.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18980.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19009.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0017 others(1): Show a0003c0003 a0003c0007 a0003c0017 a0003c0025	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0026 a0003c0003t0028 a0003c0007t0003 a0003c0007t0004 a0003c0007t0016 a0003c0017t0001 a0003c0025t0003	a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 others(29): Show a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 a0003c0003t0001g0072 a0003c0003t0001g0084 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0156 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0208 a0003c0003t0001g0230 a0003c0003t0002g0069 a0003c0003t0002g0140 a0003c0003t0002g0231 a0003c0003t0003g0067 a0003c0003t0003g0121 a0003c0003t0003g0124 a0003c0003t0003g0126 a0003c0003t0005g0135 a0003c0003t0006g0041 a0003c0003t0013g0219 a0003c0003t0014g0115 a0003c0003t0017g0239 a0003c0003t0026g0221 a0003c0003t0028g0218 a0003c0007t0003g0122 a0003c0007t0004g0150 a0003c0007t0004g0202 a0003c0007t0016g0203 a0003c0017t0001g0089 a0003c0025t0003g0078	35	432	0.0810	1	c.695 others(4): Show c.695dupC	p.Pro others(5): Show p.Pro233fs	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	4/4	777/2251	695/1047	232/348			chr19	TogoVar
SCRIB_chr8_143785925_143820773	143792383	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG01099.hp1 HG01109.hp2 others(7): Show HG00544.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01978.hp2 HG02055.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp1	a0005 a0008 a0018 a0005 a0008 a0018	a0005c0046 a0005c0051 a0005c0052 others(5): Show a0005c0046 a0005c0051 a0005c0052 a0005c0060 a0005c0061 a0005c0073 a0008c0015 a0018c0037	a0005c0046t0001 a0005c0051t0001 a0005c0052t0001 others(5): Show a0005c0046t0001 a0005c0051t0001 a0005c0052t0001 a0005c0060t0001 a0005c0061t0001 a0005c0073t0001 a0008c0015t0001 a0018c0037t0001	a0005c0046t0001g0204 a0005c0051t0001g0082 a0005c0052t0001g0134 others(7): Show a0005c0046t0001g0204 a0005c0051t0001g0082 a0005c0052t0001g0134 a0005c0060t0001g0146 a0005c0061t0001g0149 a0005c0073t0001g0222 a0008c0015t0001g0182 a0008c0015t0001g0185 a0008c0015t0001g0189 a0018c0037t0001g0173	10	386	0.0259	1	c.435 others(10): Show c.4350_4351insG	p.Pro others(6): Show p.Pro1451fs	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	32/37	4751/5607	4350/4968	1450/1655			chr8	TogoVar
SCYGR7_chr2_227723335_227733625	227728565	C C	A A	stop_gained stop_gained	HIGH	HG01192.hp1 HG01192.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0000 a0012c0027t0001g0000	1	454	0.0022	0	c.231 others(3): Show c.231C>A	p.Cys others(3): Show p.Cys77*	SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding	1/1	231/291	231/291	77/96			chr2	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392			chr18	TogoVar
SLC11A1_chr2_218377273_218401894	218391401	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01496.hp1 HG01978.hp1 others(8): Show HG01192.hp1 HG01496.hp1 HG01978.hp1 HG02809.hp2 HG03927.hp1 NA18964.hp2 NA18974.hp1 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA19090.hp1	a0003 a0003	a0003c0009 a0003c0013 a0003c0015 others(1): Show a0003c0009 a0003c0013 a0003c0015 a0003c0024	a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 others(2): Show a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 a0003c0015t0002 a0003c0024t0002	a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 others(5): Show a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 a0003c0013t0004g0086 a0003c0013t0007g0002 a0003c0015t0002g0008 a0003c0015t0002g0032 a0003c0024t0002g0003	11	372	0.0296	1	c.107 others(5): Show c.1074dupC	p.Ala others(5): Show p.Ala359fs	SLC11A1	ENSG00000018280.17	transcript	ENST00000233202.11	protein_coding	11/15	1171/3608	1075/1653	359/550		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC22A10_chr11_63284903_63316783	63290453	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0009 a0002c0012 others(4): Show a0002c0002 a0002c0009 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0011c0019t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0171 a0002c0002t0003g0027 a0002c0002t0003g0137 a0002c0002t0007g0038 a0002c0002t0007g0083 a0002c0002t0009g0004 a0002c0002t0009g0118 a0002c0009t0002g0025 a0002c0012t0002g0060 a0002c0013t0002g0124 a0002c0014t0002g0010 a0002c0015t0002g0107 a0011c0019t0002g0042	162	400	0.4050	0	c.288 others(3): Show c.288G>A	p.Trp others(3): Show p.Trp96*	SLC22A10	ENSG00000184999.13	transcript	ENST00000332793.11	protein_coding	1/10	551/2638	288/1626	96/541			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0012 a0013	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0002c0002 a0002c0015 a0005c0006 a0005c0016 a0007c0009 a0008c0012 a0012c0020 a0013c0014	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(13): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0002c0002t0001 a0002c0015t0001 a0005c0006t0002 a0005c0006t0004 a0005c0016t0002 a0007c0009t0001 a0007c0009t0006 a0008c0012t0001 a0012c0020t0001 a0013c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0001g0253 a0001c0005t0001g0305 a0001c0005t0001g0311 a0001c0005t0001g0312 a0001c0005t0001g0316 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0005t0001g0329 a0001c0007t0001g0244 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0272 a0001c0007t0001g0274 a0001c0007t0001g0277 a0001c0007t0001g0304 a0001c0007t0001g0309 a0001c0007t0001g0315 a0001c0007t0001g0317 a0001c0011t0001g0331 a0001c0011t0001g0332 a0001c0011t0001g0333 a0001c0011t0001g0334 a0001c0021t0001g0140 a0001c0022t0001g0154 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0314 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0340 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0015t0001g0092 a0005c0006t0002g0068 a0005c0006t0002g0069 a0005c0006t0002g0070 a0005c0006t0002g0073 a0005c0006t0002g0077 a0005c0006t0002g0078 a0005c0006t0002g0079 a0005c0006t0002g0080 a0005c0006t0002g0081 a0005c0006t0002g0082 a0005c0006t0002g0083 a0005c0006t0002g0084 a0005c0006t0002g0085 a0005c0006t0002g0086 a0005c0006t0004g0002 a0005c0016t0002g0027 a0007c0009t0001g0093 a0007c0009t0001g0094 a0007c0009t0001g0095 a0007c0009t0001g0096 a0007c0009t0001g0097 a0007c0009t0006g0353 a0008c0012t0001g0090 a0008c0012t0001g0091 a0012c0020t0001g0313 a0013c0014t0001g0089	267	364	0.7335	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63143377	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0003 a0005 a0009 others(2): Show a0003 a0005 a0009 a0010 a0014	a0003c0003 a0003c0008 a0005c0006 others(4): Show a0003c0003 a0003c0008 a0005c0006 a0005c0016 a0009c0013 a0010c0018 a0014c0017	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(7): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0008t0002 a0005c0006t0002 a0005c0006t0004 a0005c0016t0002 a0009c0013t0002 a0010c0018t0002 a0014c0017t0002	a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 others(77): Show a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0005g0012 a0003c0008t0002g0001 a0003c0008t0002g0020 a0003c0008t0002g0021 a0003c0008t0002g0022 a0003c0008t0002g0023 a0003c0008t0002g0024 a0005c0006t0002g0068 a0005c0006t0002g0069 a0005c0006t0002g0070 a0005c0006t0002g0073 a0005c0006t0002g0077 a0005c0006t0002g0078 a0005c0006t0002g0079 a0005c0006t0002g0080 a0005c0006t0002g0081 a0005c0006t0002g0082 a0005c0006t0002g0083 a0005c0006t0002g0084 a0005c0006t0002g0085 a0005c0006t0002g0086 a0005c0006t0004g0002 a0005c0016t0002g0027 a0009c0013t0002g0018 a0009c0013t0002g0019 a0010c0018t0002g0088 a0014c0017t0002g0025	86	364	0.2363	0	c.402 others(5): Show c.402+1G>A		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	1/9						chr11	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 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 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 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.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.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 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 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.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 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 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0004c0008 a0006c0006 a0007c0007 a0008c0012 a0010c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0004c0008t0001 a0006c0006t0001 a0007c0007t0001 a0008c0012t0001 a0010c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0004c0008t0001g0001 a0006c0006t0001g0001 a0007c0007t0001g0001 a0008c0012t0001g0001 a0010c0014t0001g0001	316	410	0.7707	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338			chr17	TogoVar
SLC52A2_chr8_144353613_144366272	144360065	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01192.hp2 HG01891.hp2 others(10): Show HG00597.hp2 HG01192.hp2 HG01891.hp2 HG02055.hp2 HG02300.hp1 HG02723.hp2 HG03130.hp2 HG03225.hp1 NA18979.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0005g0001 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0005g0001	13	384	0.0339	1	c.576 others(4): Show c.576dupC	p.Ala others(5): Show p.Ala193fs	SLC52A2	ENSG00000185803.12	transcript	ENST00000643944.2	protein_coding	3/5	1140/2158	577/1338	193/445		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0040 a0006c0008 a0006c0021 a0006c0044 a0006c0045 a0006c0046 a0006c0047 a0007c0007 a0008c0015 a0008c0022 a0008c0049 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0040t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0044t0003 a0006c0045t0004 a0006c0046t0004 a0006c0047t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0049t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0317 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0005t0001g0140 a0001c0005t0002g0005 a0001c0005t0002g0031 a0001c0005t0002g0048 a0001c0005t0002g0097 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0287 a0001c0005t0002g0324 a0001c0005t0002g0326 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0009t0001g0129 a0001c0009t0002g0011 a0001c0009t0002g0053 a0001c0009t0002g0131 a0001c0009t0002g0133 a0001c0009t0002g0137 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0016t0001g0002 a0001c0016t0001g0073 a0001c0016t0001g0323 a0001c0016t0001g0336 a0001c0029t0002g0253 a0001c0040t0004g0270 a0006c0008t0003g0038 a0006c0008t0003g0165 a0006c0008t0003g0192 a0006c0008t0003g0193 a0006c0008t0003g0204 a0006c0008t0003g0220 a0006c0008t0004g0176 a0006c0008t0004g0178 a0006c0008t0004g0202 a0006c0008t0004g0207 a0006c0021t0004g0034 a0006c0021t0004g0170 a0006c0044t0003g0012 a0006c0045t0004g0172 a0006c0046t0004g0212 a0006c0047t0004g0201 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0015t0004g0222 a0008c0015t0004g0228 a0008c0015t0004g0229 a0008c0015t0004g0230 a0008c0015t0004g0232 a0008c0022t0003g0231 a0008c0022t0003g0234 a0008c0022t0004g0236 a0008c0049t0004g0239 a0010c0012t0003g0039 a0010c0012t0003g0214 a0010c0012t0003g0215 a0010c0012t0003g0216 a0010c0012t0004g0213 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203 a0015c0024t0002g0018	181	453	0.3996	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628			chr5	TogoVar
SMN2_chr5_70044669_70082595	70072861	GCCTGTAA others(6303): Show GCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAA AAGTACAAAAACAAATTAGCCGGGCATGTTGGCGGGCACCTTTTGTCCCA GCTGCTCGGGAGGCTGAGGCAGGAGAGTGGCGTGAACCCAGGAGGTGGAG CTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGCGACAGAG CGAGACTCTGTCTCAAAAAATAAAATAAAAAAGAAAGTATACAAGTCAGT GGTTTTGGTTTTCAGTTATGCAACCATCACTACAATTTAAGAACATTTTC ATCACCCCAAAAAGAAACCCTGTTACCTTCATTTTCCCCAGCCCTAGGCA GTCAGTACACTTTCTGTCTCTATGAATTTGTCTATTTTAGATATTATATA TAAACGGAATTATACGATATGTGGTCTTTTGTGTCTGGCTTCTTTCACTT AGCATGCTATTTTCAAGATTCATCCATGCTGTAGAATGCACCAGTACTGC ATTCCTTCTTATTGCTGAATATTCTGTTGTTTGGTTATATCACATTTTAT CCATTCATCAGTTCATGGACATTTAGGTTGTTTTTATTTTTGGGCTATAA TGAATAATGTTGCTATGAACATTCGTTTGTGTTCTTTTTGTTTTTTTGGT TTTTTGGGTTTTTTTTGTTTTGTTTTTGTTTTTGAGACAGTCTTGCTCTG TCTCCTAAGCTGGAGTGCAGTGGCATGATCTTGGCTTACTGCAAGCTCTG CCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCCGACAAGTAGCTGGGA CTACAGGCGTGTGCCACCATGCACGGCTAATTTTTTGTATTTTTAGTAGA GATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCACCTGGCCTTAAGTGTTTTTAATACGTCATTGCCTTAAGCTAACAA TTCTTAACCTTTGTTCTACTGAAGCCACGTGGTTGAGATAGGCTCTGAGT CTAGCTTTTAACCTCTATCTTTTTGTCTTAGAAATCTAAGCAGAATGCAA ATGACTAAGAATAATGTTGTTGAAATAACATAAAATAGGTTATAACTTTG ATACTCATTAGTAACAAATCTTTCAATACATCTTACGGTCTGTTAGGTGT AGATTAGTAATGAAGTGGGAAGCCACTGCAAGCTAGTATACATGTAGGGA AAGATAGAAAGCATTGAAGCCAGAAGAGAGACAGAGGACATTTGGGCTAG ATCTGACAAGAAAAACAAATGTTTTAGTATTAATTTTTGACTTTAAATTT TTTTTTTATTTAGTGAATACTGGTGTTTAATGGTCTCATTTTAATAAGTA TGACACAGGTAGTTTAAGGTCATATATTTTATTTGATGAAAATAAGGTAT AGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG AGGCAGGCGGATCACCTGAGGTCGGGAGTTAGAGACTAGCCTCAACATGG AGAAACCCCGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCT TGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACT CCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAG GTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATC AGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAA GGCAGGCGAATCACCTGAAGTCGGGAGTTCCAGATCAGCCTGACCAACAT GGAGAAACCCTGTCTCTACTAAAAATACAAAACTAGCCGGGCATGGTGGC GCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTT GAACCGAGAAGGCGGAGGTTGCGGTGAGCCAAGATTGCACCATTGCACTC CAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAGGAAGAAA AATATTTTTTTAAATTAATTAGTTTATTTATTTTTTAAGATGGAGTTTTG CCCTGTCACCCAGGCTGGGGTGCAATGGTGCAATCTCGGCTCACTGCAAC CTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGC TGTGATTACAGCCATATGCCACCACGCCCAGCCAGTTTTGTGTTTTGTTT TGTTTTTTGTTTTTTTTTTTTGAGAGGGTGTCTTGCTCTGTCCCCCAAGC TGGAGTGCAGCGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGT TCACACCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGC CCGCCACCACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTT TCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTTTGATCCACCC GCCTCAGCCTCCCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCG GCCTAGTCTTGTATTTTTAGTAGAGTCGGGATTTCTCCATGTTGGTCAGG CTGTTCTCCAAATCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCAAAA GTGCAAGGCAAGGCATTACAGGCATGAGCCACTGTGACCGGCAATGTTTT TAAATTTTTTACATTTAAATTTTATTTTTTAGAGACCAGGTCTCACTCTA TTGCTCAGGCTGGAGTGCAAGGGCACATTCACAGCTCACTGCAGCCTTGA CCTCCAGGGCTCAAGCAGTCCTCTCACCTCAGTTTCCCGAGTAGCTGGGA CTACAGTGATAATGCCACTGCACCTGGCTAATTTTTATTTTTATTTATTT ATTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGT GGTGTAAATCTCAGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATT CTCCTGCCTCAACCTCCCAAGTAGCTGGGATTAGAGGTCCCCACCACCAT GCCTGGCTAATTTTTTGTACTTTCAGTAGAAACGGGGTTTTGCCATGTTG GCCAGGCTGTTCTCGAACTCCTGAGCTCAGGTGATCCAACTGTCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTAGCCTGAGCC ACCACGCCGGCCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCATTAT GTTGCCCAGGGTGGTGTCAAGCTCCAGGTCTCAAGTGATCCCCCTACCTC CGCCTCCCAAAGTTGTGGGATTGTAGGCATGAGCCACTGCAAGAAAACCT TAACTGCAGCCTAATAATTGTTTTCTTTGGGATAACTTTTAAAGTACATT AAAAGACTATCAACTTAATTTCTGATCATATTTTGTTGAATAAAATAAGT AAAATGTCTTGTGAAACAAAATGCTTTTTAACATCCATATAAAGCTATCT ATATATAGCTATCTATATCTATATAGCTATTTTTTTTAACTTCCTTTATT TTCCTTACAGGGTTTTAGACAAAATCAAAAAGAAGGAAGGTGCTCACATT CCTTAAATTAAGGAGTAAGTCTGCCAGCATTATGAAAGTGAATCTTACTT TTGTAAAACTTTATGGTTTGTGGAAAACAAATGTTTTTGAACATTTAAAA AGTTCAGATGTTAGAAAGTTGAAAGGTTAATGTAAAACAATCAATATTAA AGAATTTTGATGCCAAAACTATTAGATAAAAGGTTAATCTACATCCCTAC TAGAATTCTCATACTTAACTGGTTGGTTGTGTGGAAGAAACATACTTTCA CAATAAAGAGCTTTAGGATATGATGCCATTTTATATCACTAGTAGGCAGA CCAGCAGACTTTTTTTTATTGTGATATGGGATAACCTAGGCATACTGCAC TGTACACTCTGACATATGAAGTGCTCTAGTCAAGTTTAACTGGTGTCCAC AGAGGACATGGTTTAACTGGAATTCGTCAAGCCTCTGGTTCTAATTTCTC ATTTGCAGGAAATGCTGGCATAGAGCAGCACTAAATGACACCACTAAAGA AACGATCAGACAGATCTGGAATGTGAAGCGTTATAGAAGATAACTGGCCT CATTTCTTCAAAATATCAAGTGTTGGGAAAGAAAAAAGGAAGTGGAATGG GTAACTCTTCTTGATTAAAAGTTATGTAATAACCAAATGCAATGTGAAAT ATTTTACTGGACTCTATTTTGAAAAACCATCTGTAAAAGACTGAGGTGGG GGTGGGAGGCCAGCACGGTGGTGAGGCAGTTGAGAAAATTTGAATGTGGA TTAGATTTTGAATGATATTGGATAATTATTGGTAATTTTATGAGCTGTGA GAAGGGTGTTGTAGTTTATAAAAGACTGTCTTAATTTGCATACTTAAGCA TTTAGGAATGAAGTGTTAGAGTGTCTTAAAATGTTTCAAATGGTTTAACA AAATGTATGTGAGGCGTATGTGGCAAAATGTTACAGAATCTAACTGGTGG ACATGGCTGTTCATTGTACTGTTTTTTTCTATCTTCTATATGTTTAAAAG TATATAATAAAAATATTTAATTTTTTTTTAAATTAGCTGTATCTGTGATT GTATTTCTTTTTTGCATATTATTTTGCCCTTTGGCCCATATTTTGATATG GATGCCACCATAGCATTTTGTGTATGTGCATGTGTATTCCCACTTAATGT CACATTTTTCATGTCTTTACATATTCTTATTTTTGTTTGTTTTTGAGACA GAGTCTCGCTCTGCTGCCCACGCTGGAGTGCAGTGGTGCAATCTCAGCTC ACTGCAACCTCTGCTATCCGGGTTCAAGCAGTTCTCGTGCCTCACCCACG TGAGTAGTTGGGATTACAGGCATGTGGCACCATGCCCCACTAAGTTTTGT ATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAAC TCCTGCCCTCAAGTGATTCGACCACCCTGGCCTCCCAAAGTGCTGGGATT ACAGCCGTGAGCCACCGCACACGGCCTCTCTATTTATTTCTATACATAGC TTTTCACATTATATTATGTTTATATATTGTTTATATCTGTATTTCCTCTT TCATTAGAGAAAAGGTAGTACATCTTATTCTTCATGGTGTCTACAATATC TGGCAGTTTTTGGAAGTCAAGCGTGAGCTTAGAGCATAGACTGGTGGGAT TGTCAAAGAAGAGGGCAACTGGAAGAGAACTGTCAGTTATTTTTGGATCA GTCTTTAATTCATCATGACGGGTTAGGCATTAGTTGTATTTCTTGCTAAT TTTGAAGAAGACTTATTAACAAATCCTACATTAGGTAAATGGTTTTGAAA GTTGAGTTAATCATAATGGTGTTTGACCTAGGACTATTTTTAGGCCCTAT TTATCTTAATATCGAATAATGAAGCAGCTTCCCCCTTAGATATAGACAGA AAACATCAAAGCCACCACACTACCTGGCTGGATTTATCCTAGTAATAAAA TCAAAACTGAGCTAGTTCTCTGGCTTTCATTGTAATAATTGTCCTTGTGG TTGTAAGGAATCTAGATGAAAATTACATGGTCTGTTCTACAGCCACAGCT GTACCTACATTCAGAAGACAGACAAAAGTTGCTGTGTTTGAAGAGATCCT TCATTAAGGGATCAGACAGAGATTACTTTGAGACATATTCTAAGTTTAAC TTTTCTGCAGGGTTGCCATTAACAGAAATAAACTACAGAGTTAATTTCTT TTTGTTTTTGATACAGTCTAACTCTCACCCAAGCTGGAGTGCAGTGGCGC AATTTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTG CCTCAGCCTCCCGAGCAGCTGGGACTACAGGCATGTGCCACTATGCCTGG CTAATTTTTGTATTTTTAGTAGTAGAGACGTGGTTTCGCCACGTTGGCCA GGCTGGTCTGGAACTCCTGACCCCAGGTAATCCACCTGCCTCGGCCTCCC AAAGTGCTGGGATTACAAGCTTGAGCCACTACGCCTGACCCAGAGTTAAC TTTTTAAAAAAGTTTTTATGAACTTAAGTCTTGTGATGTTTGAAATAATG GATTCAATTTAGACATCAAATTCCAGAAGTTACTAAGAGCAGCTGGGCGC GGCAGCTCACA	G G	exon_loss_variant exon_loss_variant	HIGH	HG01074.hp1 HG01175.hp1 HG01192.hp2 HG01074.hp1 HG01175.hp1 HG01192.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0010 a0002c0004t0002g0078 a0002c0004t0002g0010 a0002c0004t0002g0078	3	108	0.0278	-6310	c.834 others(14): Show c.834+2111_*2156del		SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding	8/9						chr5	TogoVar
SMPDL3A_chr6_122784258_122814720	122803678	C C	T T	stop_gained stop_gained	HIGH	HG01168.hp2 HG01192.hp1 HG01168.hp2 HG01192.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0001 a0006c0011t0002g0033 a0006c0011t0002g0001 a0006c0011t0002g0033	2	440	0.0045	0	c.583 others(3): Show c.583C>T	p.Gln others(4): Show p.Gln195*	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	5/8	672/1763	583/1362	195/453			chr6	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0043 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0079 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0130 a0001c0006t0076 a0001c0007t0003 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 others(81): Show a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0315 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0004g0207 a0001c0001t0004g0234 a0001c0001t0004g0272 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0119 a0001c0001t0006g0172 a0001c0001t0006g0183 a0001c0001t0007g0164 a0001c0001t0007g0317 a0001c0001t0008g0193 a0001c0001t0009g0165 a0001c0001t0009g0175 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0277 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0337 a0001c0001t0012g0285 a0001c0001t0012g0329 a0001c0001t0013g0258 a0001c0001t0013g0259 a0001c0001t0013g0263 a0001c0001t0013g0264 a0001c0001t0013g0276 a0001c0001t0017g0126 a0001c0001t0019g0325 a0001c0001t0019g0330 a0001c0001t0019g0332 a0001c0001t0019g0333 a0001c0001t0019g0335 a0001c0001t0022g0133 a0001c0001t0022g0186 a0001c0001t0023g0118 a0001c0001t0023g0141 a0001c0001t0024g0343 a0001c0001t0024g0344 a0001c0001t0024g0347 a0001c0001t0025g0173 a0001c0001t0033g0342 a0001c0001t0034g0115 a0001c0001t0034g0177 a0001c0001t0039g0116 a0001c0001t0039g0132 a0001c0001t0043g0336 a0001c0001t0052g0359 a0001c0001t0056g0181 a0001c0001t0058g0341 a0001c0001t0065g0012 a0001c0001t0067g0128 a0001c0001t0069g0143 a0001c0001t0071g0139 a0001c0001t0079g0275 a0001c0001t0091g0331 a0001c0001t0092g0266 a0001c0001t0093g0274 a0001c0001t0096g0265 a0001c0001t0130g0243 a0001c0006t0076g0334 a0001c0007t0003g0142 a0002c0002t0001g0228	84	182	0.4615	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA2L_chr16_89691357_89706705	89697587	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01099.hp2 HG01109.hp2 HG01175.hp2 others(17): Show HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG03098.hp2 HG03710.hp2 NA18964.hp2 NA18977.hp2 NA18981.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp1 NA19090.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0009 others(1): Show a0002c0004 a0002c0007 a0002c0009 a0002c0011	a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 others(5): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0010 a0002c0007t0002 a0002c0007t0024 a0002c0009t0001 a0002c0011t0003	a0002c0004t0001g0019 a0002c0004t0001g0060 a0002c0004t0001g0072 others(12): Show a0002c0004t0001g0019 a0002c0004t0001g0060 a0002c0004t0001g0072 a0002c0004t0001g0088 a0002c0004t0001g0124 a0002c0004t0003g0021 a0002c0004t0003g0053 a0002c0004t0004g0122 a0002c0004t0010g0078 a0002c0004t0010g0083 a0002c0007t0002g0100 a0002c0007t0002g0110 a0002c0007t0024g0070 a0002c0009t0001g0095 a0002c0011t0003g0052	20	416	0.0481	1	c.102 others(5): Show c.1021dupG	p.Val others(5): Show p.Val341fs	SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding	3/3	1100/2331	1021/1275	341/424			chr16	TogoVar
SPATA31A3_chr9_66981304_66997550	66988619	G G	A A	stop_gained stop_gained	HIGH	HG01081.hp1 HG01167.hp1 HG01192.hp1 others(19): Show HG01081.hp1 HG01167.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp1 HG01934.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18986.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0006 a0015 a0021 others(1): Show a0006 a0015 a0021 a0037	a0006c0005 a0006c0056 a0006c0057 others(4): Show a0006c0005 a0006c0056 a0006c0057 a0015c0027 a0015c0058 a0021c0026 a0037c0060	a0006c0005t0001 a0006c0056t0001 a0006c0057t0001 others(4): Show a0006c0005t0001 a0006c0056t0001 a0006c0057t0001 a0015c0027t0001 a0015c0058t0001 a0021c0026t0001 a0037c0060t0001	a0006c0005t0001g0009 a0006c0005t0001g0024 a0006c0005t0001g0036 others(9): Show a0006c0005t0001g0009 a0006c0005t0001g0024 a0006c0005t0001g0036 a0006c0005t0001g0064 a0006c0005t0001g0073 a0006c0005t0001g0149 a0006c0056t0001g0070 a0006c0057t0001g0071 a0015c0027t0001g0035 a0015c0058t0001g0075 a0021c0026t0001g0037 a0037c0060t0001g0111	22	406	0.0542	0	c.187 others(4): Show c.1879C>T	p.Gln others(4): Show p.Gln627*	SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	4/4	1908/4223	1879/4044	627/1347			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135895	AATTTTAT others(3485): Show AATTTTATTTTAAGTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTT TCTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGC ACGCTCTTGGCTCACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCC GGCTAATTTTTTGTATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCA GGATGGTCTTGTTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATT TTAATGTCTCTCTGGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGAT AAAAGTTATTTTATTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAA ATATCGGTTCGTGCCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTG TTGTCGTTGTTGACTTTTGAAAACTTTAAACAATATTCTAGATATGAGCT CCTTGTCAGATATGGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTT TTACCCTGTCTTTATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATT TTGATAACATCCAATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGT TCATGTCTAATAATTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCAT TAAATTTCATATTTTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGA TGGAGTCTTCCTCCATCTTCATATCTGACCACCATTGGTATCTAATTGGT TTTCTTATTGTCTACCATCCCCAGGTGATATCTGATCACTCTGGCATGGC TTCAGCAAGAATTCTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGT AATTTTCCATACACTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATT TCTATTCAGAGGGAAACCTGAATATATGGAAACTGGAGATTACTGCAAGA CCCTATTGCAGTAATCTCTATATCTATTGCAATAATCCCTCTGAATAACG TTTGTCTTACTATTTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATA CAGCTCAACAAAACAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTAT TCTACCCAATTTTTTAACTTTTTACATAGCTACAGAAATCAAGACAGTGT GGTATTGGCAGGGGGACAGACAGTTCAATAAAACAGAATTGAGAACTCAG AAATAGTTCCATACAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATA TCGGTTCAATAGTACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAA CAATAACCTCAATCTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAG CCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGG CAGGTGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGA AACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGC GCCTGTAATCCCCAGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAA CTCTGGAAGCAAAGGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAG CCTGCACAAAAAACAAAATAAATAAAAATAACACACAAACACACACGCAC ACACACAGGGATTTTCAATATGAGGTCCACCATGGACGCCATCAGTCCCT GTTCCTCTGCTCCAGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAG CTGTCAGGTAGCATTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCC CGGTGGGAGGCCCTCGGGGGCCCAGCACAGGCCCCATATCACCCCACACA GAAGAGGCTGGGTCCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCA GGGCTCAGGGCCTGGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGA CCTCCCCCGTCTCATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTG GCCGCTGAGCCCACGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCC CACAGATGGACTGAGAGCTTGGGATGGAAATCCCAGTACACGATCTACCC CTACCAACCCCTGGCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGT CTCTCCTGAGACTTCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTG GAACTAATAATAAAAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACT GAGAGCTCCTTACCTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCA CAACGGAGGTAAGAGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGC AAACACCAAGGTGAGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGG TGTTTAGTGATGAGGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCC ATGTGAATAGGCGCATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGT GGAGACTAGGGACTGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCAC ATCACAAAGGGCTCCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGA AGCACAGCCCCTCCCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGC CTTCCAGATCCCTCCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCC AGTTTTCTATTCTTTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTA TCTGTTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAAT CTGTAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCA GAATCTCGTTCGTCCTCAACTCCAGCTTTCCCACACAATGTTTTTGTCTT CTGTGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTT GCAAATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCT TTTTTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCGCCTCCC GGGTTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAG GCGCCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGT GATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCCATCCTTCTATCTCACTTTCAATCAAAGGGACCTACCCACATA CAATTAAGATTTTTTAAAAATTCTATTTATGTACTTATGTAAT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG01192.hp2 NA19002.hp2 HG01192.hp2 NA19002.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0005 a0002c0001t0001 a0002c0001t0005	a0002c0001t0001g0007 a0002c0001t0005g0126 a0002c0001t0001g0007 a0002c0001t0005g0126	2	382	0.0052	-3492	c.-94 others(13): Show c.-941_190-2227del		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4						chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34893048	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18989.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043	43	432	0.0995	-1	c.355 others(4): Show c.355delG	p.Ala others(5): Show p.Ala119fs	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/5	397/967	355/627	119/208			chr9	TogoVar
SPATA4_chr4_176179579_176200585	176184858	TTCTC TTCTC	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(12): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG02004.hp2 HG03704.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0001 a0002c0005t0001 a0002c0006t0001	a0002c0005t0001g0013 a0002c0005t0001g0060 a0002c0005t0001g0072 others(2): Show a0002c0005t0001g0013 a0002c0005t0001g0060 a0002c0005t0001g0072 a0002c0006t0001g0015 a0002c0006t0001g0096	15	454	0.0330	-4	c.836 others(11): Show c.836_839delGAGA	p.Arg others(5): Show p.Arg279fs	SPATA4	ENSG00000150628.7	transcript	ENST00000280191.7	protein_coding	6/6	862/1142	836/918	279/305			chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46183495	CTGCAGGG others(326): Show CTGCAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAG CCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGAC CAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGA GGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCG GGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCT GGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01069.hp2 HG01106.hp1 HG01192.hp1 others(1): Show HG01069.hp2 HG01106.hp1 HG01192.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0030 a0001c0001t0011 a0001c0001t0030	a0001c0001t0011g0034 a0001c0001t0011g0066 a0001c0001t0011g0067 others(1): Show a0001c0001t0011g0034 a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0030g0065	4	250	0.0160	-333	c.-95 others(12): Show c.-958-54_-680del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				680		chr21	TogoVar
SPDYE21_chr7_67271941_67294005	67281505	T T	TGGGTGGC TGGGTGGC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0002 a0009 a0013 others(2): Show a0002 a0009 a0013 a0015 a0017	a0002c0002 a0002c0010 a0009c0011 others(3): Show a0002c0002 a0002c0010 a0009c0011 a0013c0015 a0015c0019 a0017c0014	a0002c0002t0001 a0002c0002t0009 a0002c0002t0018 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0018 a0002c0010t0001 a0002c0010t0021 a0009c0011t0001 a0013c0015t0001 a0015c0019t0001 a0017c0014t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0009g0001 a0002c0002t0009g0004 a0002c0002t0009g0077 a0002c0002t0018g0087 a0002c0010t0001g0004 a0002c0010t0001g0012 a0002c0010t0001g0036 a0002c0010t0001g0037 a0002c0010t0021g0004 a0009c0011t0001g0001 a0009c0011t0001g0012 a0009c0011t0001g0071 a0013c0015t0001g0013 a0015c0019t0001g0001 a0017c0014t0001g0005	131	458	0.2860	7	c.514 others(14): Show c.514_520dupGTGGCGG	p.Glu others(5): Show p.Glu174fs	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	4/9	1065/3286	521/1209	174/402		INFO_REALIGN_3_PRIME	chr7	TogoVar
SULT1C3_chr2_108234968_108265886	108259008	AAAACTTG others(15): Show AAAACTTGGTCAGGTGATGTTAT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0003 a0014 a0016 a0003 a0014 a0016	a0003c0002 a0003c0027 a0014c0021 others(1): Show a0003c0002 a0003c0027 a0014c0021 a0016c0017	a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 others(2): Show a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 a0014c0021t0002 a0016c0017t0004	a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 others(19): Show a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0032 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0027t0004g0009 a0014c0021t0002g0001 a0016c0017t0004g0002	55	374	0.1471	-22	c.669 others(29): Show c.669_690delTTGGTCAGGTGATGTTATAAAC	p.Trp others(5): Show p.Trp224fs	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/8	792/1244	669/915	223/304		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUMO4_chr6_149395262_149406278	149400392	A A	G G	start_lost start_lost	HIGH	HG01192.hp1 HG01891.hp2 HG02280.hp2 others(4): Show HG01192.hp1 HG01891.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG03098.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	7	416	0.0168	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SUMO4	ENSG00000177688.7	transcript	ENST00000326669.6	protein_coding	1/1	131/1017	1/288	1/95			chr6	TogoVar
TAC4_chr17_49833300_49853069	49844056	TCACTCAC others(4): Show TCACTCACCTCC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00738.hp2 HG01106.hp1 others(10): Show HG00639.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02165.hp2 NA18747.hp2 NA18966.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0006 a0002c0002t0001g0101 a0002c0002t0001g0102	13	404	0.0322	-11	c.196 others(20): Show c.196_199+7delGGAGGTGAGTG	p.Gly others(4): Show p.Gly66fs	TAC4	ENSG00000176358.16	transcript	ENST00000436235.6	protein_coding	2/5		196/324	66/107			chr17	TogoVar
TAF11L10_chr5_17592232_17602828	17597711	TGGGTGCT others(724): Show TGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTG CTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGT TTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAG CTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGAT GAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCG CCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACA CACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGT ATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTATT TAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACT GCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTG CGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTT GGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTT TTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGC CCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCAGTGCTGGG GAATCTCACTCTGAGCTCACTTCCTGATCCTG	T T	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0007 a0002c0002 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0006t0001 a0002c0007t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000	150	352	0.4261	-731	c.-61 others(8): Show c.-614_117del	p.Met others(10): Show p.Met1_Pro39del	TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding	1/1	117/597	1/597	1/198			chr5	TogoVar
TAF4_chr20_61969798_62070881	62064985	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00741.hp1 HG01192.hp1 others(8): Show HG00408.hp1 HG00741.hp1 HG01192.hp1 HG02055.hp2 HG02280.hp2 HG02602.hp2 HG02738.hp1 HG03927.hp1 HG04204.hp1 NA18957.hp2 NA19082.hp2	a0002 a0002	a0002c0007 a0002c0020 a0002c0021 others(2): Show a0002c0007 a0002c0020 a0002c0021 a0002c0022 a0002c0037	a0002c0007t0001 a0002c0020t0001 a0002c0021t0001 others(2): Show a0002c0007t0001 a0002c0020t0001 a0002c0021t0001 a0002c0022t0001 a0002c0037t0001	a0002c0007t0001g0017 a0002c0007t0001g0018 a0002c0007t0001g0020 others(8): Show a0002c0007t0001g0017 a0002c0007t0001g0018 a0002c0007t0001g0020 a0002c0007t0001g0021 a0002c0007t0001g0022 a0002c0007t0001g0023 a0002c0007t0001g0024 a0002c0020t0001g0019 a0002c0021t0001g0025 a0002c0022t0001g0026 a0002c0037t0001g0305	11	312	0.0353	1	c.825 others(4): Show c.825dupC	p.Ala others(5): Show p.Ala276fs	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/15	896/4699	825/3258	275/1085			chr20	TogoVar
TAP2_chr6_32820415_32843739	32828908	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0008 a0009 a0014 a0015 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0002c0002 a0002c0006 others(19): Show a0001c0001 a0002c0002 a0002c0006 a0002c0008 a0002c0016 a0002c0032 a0002c0033 a0002c0035 a0002c0036 a0006c0011 a0006c0014 a0006c0021 a0008c0019 a0008c0029 a0009c0013 a0014c0024 a0015c0041 a0016c0028 a0017c0044 a0018c0038 a0020c0025 a0023c0030	a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 others(28): Show a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0006t0001 a0002c0006t0003 a0002c0006t0025 a0002c0006t0027 a0002c0006t0040 a0002c0008t0001 a0002c0008t0003 a0002c0016t0001 a0002c0032t0001 a0002c0033t0001 a0002c0035t0001 a0002c0036t0003 a0006c0011t0001 a0006c0014t0003 a0006c0021t0001 a0008c0019t0003 a0008c0029t0003 a0009c0013t0017 a0014c0024t0001 a0015c0041t0039 a0016c0028t0001 a0017c0044t0026 a0018c0038t0028 a0020c0025t0003 a0023c0030t0003	a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0059 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0197 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0222 a0002c0002t0003g0016 a0002c0002t0003g0051 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0127 a0002c0002t0003g0137 a0002c0002t0003g0141 a0002c0002t0026g0195 a0002c0002t0037g0166 a0002c0002t0038g0167 a0002c0006t0001g0062 a0002c0006t0001g0151 a0002c0006t0001g0163 a0002c0006t0001g0173 a0002c0006t0003g0008 a0002c0006t0003g0011 a0002c0006t0003g0073 a0002c0006t0003g0076 a0002c0006t0003g0078 a0002c0006t0003g0079 a0002c0006t0003g0092 a0002c0006t0003g0107 a0002c0006t0003g0117 a0002c0006t0003g0129 a0002c0006t0003g0131 a0002c0006t0003g0132 a0002c0006t0003g0143 a0002c0006t0025g0050 a0002c0006t0027g0142 a0002c0006t0040g0158 a0002c0008t0001g0004 a0002c0008t0003g0034 a0002c0016t0001g0028 a0002c0032t0001g0208 a0002c0033t0001g0198 a0002c0035t0001g0194 a0002c0036t0003g0105 a0006c0011t0001g0009 a0006c0011t0001g0201 a0006c0014t0003g0055 a0006c0014t0003g0085 a0006c0014t0003g0110 a0006c0021t0001g0038 a0008c0019t0003g0086 a0008c0019t0003g0087 a0008c0019t0003g0108 a0008c0029t0003g0144 a0009c0013t0017g0022 a0014c0024t0001g0066 a0015c0041t0039g0156 a0016c0028t0001g0160 a0017c0044t0026g0220 a0018c0038t0028g0140 a0020c0025t0003g0070 a0023c0030t0003g0124	159	484	0.3285	0	c.205 others(4): Show c.2059T>C	p.Ter others(11): Show p.Ter687Glnext*?	TAP2	ENSG00000204267.19	transcript	ENST00000374897.4	protein_coding	12/12	2150/5643	2059/2061	687/686			chr6	TogoVar
TAS2R46_chr12_11056365_11067294	11061546	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19068.hp2 NA19078.hp2 NA19083.hp1 NA19087.hp1 NA20752.hp2	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0009 a0010c0010 a0002c0002 a0006c0009 a0010c0010	a0002c0002t0001 a0006c0009t0001 a0010c0010t0001 a0002c0002t0001 a0006c0009t0001 a0010c0010t0001	a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000	66	294	0.2245	0	c.749 others(3): Show c.749G>A	p.Trp others(4): Show p.Trp250*	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding	1/1	749/930	749/930	250/309			chr12	TogoVar
TBCD_chr17_82747065_82950914	82797739	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0007 a0002c0011 a0002c0025 a0002c0040 a0006c0038 a0006c0039 a0007c0016 a0008c0048 a0010c0020 a0012c0021 a0013c0046 a0014c0034 a0015c0036 a0017c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0006c0038t0005 a0006c0039t0010 a0007c0016t0001 a0008c0048t0017 a0010c0020t0003 a0012c0021t0009 a0013c0046t0011 a0014c0034t0001 a0015c0036t0003 a0017c0022t0005	a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0210 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0258 a0001c0002t0017g0267 a0001c0002t0029g0257 a0001c0002t0030g0244 a0001c0002t0040g0255 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0260 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0212 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0252 a0002c0003t0003g0269 a0002c0003t0003g0283 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0296 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0304 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0295 a0002c0003t0015g0305 a0002c0003t0015g0314 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0107 a0002c0006t0005g0116 a0002c0006t0005g0211 a0002c0006t0005g0213 a0002c0006t0005g0250 a0002c0006t0005g0282 a0002c0006t0005g0298 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0278 a0002c0011t0003g0297 a0002c0025t0002g0131 a0002c0040t0003g0309 a0006c0038t0005g0117 a0006c0039t0010g0080 a0007c0016t0001g0256 a0007c0016t0001g0318 a0008c0048t0017g0174 a0010c0020t0003g0207 a0012c0021t0009g0272 a0013c0046t0011g0233 a0014c0034t0001g0277 a0015c0036t0003g0307 a0017c0022t0005g0284	118	268	0.4403	1	c.772 others(6): Show c.772-3dupT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBKBP1_chr17_47689161_47717052	47709026	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02523.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18941.hp2 NA18964.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19064.hp1 NA19080.hp2 NA19082.hp1	a0002 a0006 a0012 others(4): Show a0002 a0006 a0012 a0013 a0015 a0016 a0017	a0002c0004 a0002c0005 a0002c0011 others(10): Show a0002c0004 a0002c0005 a0002c0011 a0002c0020 a0002c0023 a0002c0024 a0006c0008 a0006c0022 a0012c0016 a0013c0031 a0015c0021 a0016c0029 a0017c0019	a0002c0004t0001 a0002c0004t0003 a0002c0005t0001 others(12): Show a0002c0004t0001 a0002c0004t0003 a0002c0005t0001 a0002c0005t0005 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0024t0001 a0006c0008t0001 a0006c0022t0001 a0012c0016t0002 a0013c0031t0001 a0015c0021t0004 a0016c0029t0001 a0017c0019t0014	a0002c0004t0001g0002 a0002c0004t0001g0016 a0002c0004t0001g0052 others(36): Show a0002c0004t0001g0002 a0002c0004t0001g0016 a0002c0004t0001g0052 a0002c0004t0001g0060 a0002c0004t0001g0159 a0002c0004t0001g0203 a0002c0004t0001g0211 a0002c0004t0001g0232 a0002c0004t0001g0252 a0002c0004t0001g0259 a0002c0004t0003g0054 a0002c0005t0001g0003 a0002c0005t0001g0007 a0002c0005t0001g0022 a0002c0005t0001g0036 a0002c0005t0001g0044 a0002c0005t0001g0065 a0002c0005t0001g0074 a0002c0005t0001g0096 a0002c0005t0001g0120 a0002c0005t0001g0145 a0002c0005t0005g0088 a0002c0011t0001g0040 a0002c0011t0001g0076 a0002c0011t0001g0126 a0002c0020t0001g0172 a0002c0023t0001g0012 a0002c0024t0001g0083 a0006c0008t0001g0003 a0006c0008t0001g0069 a0006c0008t0001g0097 a0006c0008t0001g0147 a0006c0022t0001g0241 a0012c0016t0002g0181 a0012c0016t0002g0187 a0013c0031t0001g0024 a0015c0021t0004g0191 a0016c0029t0001g0027 a0017c0019t0014g0194	40	384	0.1042	1	c.129 others(5): Show c.1298dupC	p.Pro others(5): Show p.Pro434fs	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	9/10	1367/3342	1299/1848	433/615		INFO_REALIGN_3_PRIME	chr17	TogoVar
TEX26_chr13_30927656_30980500	30956872	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0316	102	412	0.2476	0	c.313 others(5): Show c.313-1G>A		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	3/6						chr13	TogoVar
TIGD6_chr5_149988118_150005654	149995316	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0017 a0004c0007 others(6): Show a0001c0001 a0001c0017 a0004c0007 a0009c0011 a0010c0020 a0011c0014 a0012c0015 a0013c0018 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0017t0001 a0004c0007t0003 a0009c0011t0003 a0010c0020t0003 a0011c0014t0003 a0012c0015t0001 a0013c0018t0001 a0014c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0014g0038 a0001c0017t0001g0039 a0004c0007t0003g0021 a0009c0011t0003g0064 a0009c0011t0003g0067 a0010c0020t0003g0050 a0011c0014t0003g0066 a0012c0015t0001g0036 a0013c0018t0001g0040 a0014c0019t0001g0041	192	434	0.4424	-1	c.103 others(5): Show c.1032delA	p.Glu others(5): Show p.Glu345fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	1294/3493	1032/1566	344/521			chr5	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0014t0001 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0063 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0007t0002g0014 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0064 a0001c0014t0001g0056 a0001c0014t0001g0057 a0001c0014t0001g0058 a0001c0015t0005g0037 a0001c0015t0005g0065 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0018t0007g0059 a0001c0018t0007g0070 a0001c0022t0001g0071 a0001c0023t0001g0001 a0001c0024t0001g0011	165	301	0.5482	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041			chrX	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0010 a0002c0015 others(7): Show a0002c0002 a0002c0010 a0002c0015 a0002c0018 a0002c0020 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0010t0002 a0002c0015t0002 a0002c0018t0002 a0002c0020t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0011g0022 a0002c0002t0019g0058 a0002c0002t0024g0094 a0002c0002t0027g0174 a0002c0010t0002g0023 a0002c0010t0002g0067 a0002c0010t0002g0084 a0002c0010t0002g0087 a0002c0010t0002g0104 a0002c0010t0002g0113 a0002c0015t0002g0105 a0002c0018t0002g0114 a0002c0020t0002g0090 a0003c0005t0006g0028 a0003c0005t0006g0054 a0003c0005t0006g0065 a0003c0005t0006g0070 a0003c0005t0006g0071 a0003c0005t0006g0076 a0003c0005t0006g0078 a0003c0005t0006g0097 a0003c0005t0006g0101 a0003c0005t0006g0112 a0003c0005t0006g0115 a0003c0005t0007g0019 a0003c0005t0007g0069 a0003c0005t0007g0077 a0003c0005t0007g0095 a0003c0005t0007g0107 a0003c0009t0004g0018 a0003c0009t0004g0059 a0003c0009t0004g0060 a0003c0009t0004g0061 a0003c0009t0004g0109 a0003c0009t0004g0110 a0003c0009t0015g0096 a0003c0016t0006g0106 a0003c0017t0004g0068 a0003c0019t0023g0066	100	392	0.2551	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418			chr4	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	CTGGGG CTGGGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0006 a0001c0009 others(21): Show a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0034 a0001c0038 a0001c0039 a0001c0047 a0001c0054 a0001c0072 a0001c0077 a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0062 a0003c0029 a0004c0044 a0004c0060 a0004c0066 a0005c0025	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(22): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0013t0001 a0001c0015t0001 a0001c0034t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0054t0001 a0001c0072t0001 a0001c0077t0001 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0062t0001 a0003c0029t0001 a0004c0044t0001 a0004c0060t0001 a0004c0066t0001 a0005c0025t0001	a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 a0001c0005t0001g0197 a0001c0005t0001g0227 a0001c0005t0001g0245 a0001c0005t0001g0250 a0001c0005t0001g0269 a0001c0005t0002g0016 a0001c0005t0002g0309 a0001c0005t0002g0325 a0001c0005t0002g0329 a0001c0006t0001g0008 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0121 a0001c0006t0001g0127 a0001c0006t0001g0128 a0001c0006t0001g0132 a0001c0006t0001g0133 a0001c0006t0001g0137 a0001c0006t0001g0160 a0001c0006t0001g0294 a0001c0009t0001g0001 a0001c0009t0001g0040 a0001c0009t0001g0055 a0001c0009t0001g0069 a0001c0013t0001g0066 a0001c0015t0001g0163 a0001c0015t0001g0165 a0001c0015t0001g0166 a0001c0015t0001g0167 a0001c0015t0001g0169 a0001c0015t0001g0170 a0001c0034t0001g0162 a0001c0034t0001g0164 a0001c0038t0001g0300 a0001c0039t0001g0259 a0001c0047t0001g0074 a0001c0054t0001g0134 a0001c0072t0001g0032 a0001c0077t0001g0171 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0113 a0002c0001t0001g0161 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0182 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0232 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0263 a0002c0001t0001g0265 a0002c0001t0001g0285 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0012t0001g0183 a0002c0012t0001g0184 a0002c0012t0001g0195 a0002c0012t0001g0214 a0002c0014t0001g0012 a0002c0014t0001g0282 a0002c0016t0001g0047 a0002c0019t0001g0046 a0002c0019t0001g0048 a0002c0019t0001g0067 a0002c0019t0001g0068 a0002c0061t0001g0271 a0002c0062t0001g0181 a0003c0029t0001g0006 a0004c0044t0001g0302 a0004c0060t0001g0255 a0004c0066t0001g0086 a0005c0025t0001g0034 a0005c0025t0001g0035 a0005c0025t0001g0100	125	306	0.4085	-5	c.184 others(18): Show c.1842-6_1842-2delCCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17						chr22	TogoVar
TNK2_chr3_195858364_195913551	195868357	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18949.hp1 NA18960.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18992.hp2 NA18993.hp2 NA19030.hp2 NA19054.hp2 NA19083.hp1	a0002 a0010 a0011 others(3): Show a0002 a0010 a0011 a0018 a0024 a0028	a0002c0004 a0002c0008 a0002c0010 others(20): Show a0002c0004 a0002c0008 a0002c0010 a0002c0018 a0002c0023 a0002c0026 a0002c0027 a0002c0041 a0002c0044 a0002c0057 a0002c0060 a0002c0065 a0002c0066 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0010c0079 a0011c0076 a0018c0035 a0024c0051 a0028c0048	a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 others(24): Show a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0018t0001 a0002c0018t0003 a0002c0023t0001 a0002c0026t0001 a0002c0026t0009 a0002c0027t0001 a0002c0041t0001 a0002c0044t0006 a0002c0057t0004 a0002c0060t0001 a0002c0065t0002 a0002c0066t0002 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0010c0079t0001 a0011c0076t0001 a0018c0035t0004 a0024c0051t0001 a0028c0048t0001	a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 a0002c0004t0001g0268 a0002c0004t0001g0281 a0002c0004t0001g0330 a0002c0004t0001g0340 a0002c0004t0001g0347 a0002c0004t0002g0136 a0002c0004t0002g0161 a0002c0004t0002g0237 a0002c0004t0002g0257 a0002c0004t0002g0314 a0002c0004t0002g0320 a0002c0004t0002g0352 a0002c0008t0001g0018 a0002c0008t0001g0183 a0002c0008t0001g0201 a0002c0008t0001g0215 a0002c0008t0002g0174 a0002c0008t0002g0254 a0002c0008t0002g0333 a0002c0010t0001g0032 a0002c0010t0001g0038 a0002c0010t0001g0042 a0002c0010t0001g0050 a0002c0010t0001g0051 a0002c0010t0001g0061 a0002c0018t0001g0139 a0002c0018t0001g0153 a0002c0018t0003g0143 a0002c0023t0001g0025 a0002c0023t0001g0205 a0002c0026t0001g0071 a0002c0026t0009g0102 a0002c0027t0001g0117 a0002c0027t0001g0119 a0002c0041t0001g0034 a0002c0044t0006g0023 a0002c0057t0004g0232 a0002c0060t0001g0236 a0002c0065t0002g0300 a0002c0066t0002g0238 a0002c0067t0001g0086 a0002c0068t0001g0082 a0002c0072t0001g0095 a0002c0073t0001g0078 a0002c0074t0001g0093 a0010c0079t0001g0052 a0011c0076t0001g0080 a0018c0035t0004g0229 a0024c0051t0001g0206 a0028c0048t0001g0125	53	370	0.1432	1	c.194 others(5): Show c.1940dupC	p.Pro others(5): Show p.Pro648fs	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	13/16	2025/4070	1940/3168	647/1055			chr3	TogoVar
TNRC18_chr7_5301811_5428834	5388813	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show HG00544.hp1 HG00544.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01517.hp1 HG02071.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02738.hp1 HG03098.hp2 HG03209.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2	a0004 a0047 a0059 a0004 a0047 a0059	a0004c0017 a0004c0042 a0004c0044 others(18): Show a0004c0017 a0004c0042 a0004c0044 a0004c0045 a0004c0046 a0004c0047 a0004c0048 a0004c0049 a0004c0050 a0004c0051 a0004c0052 a0004c0053 a0004c0054 a0004c0055 a0004c0056 a0004c0057 a0004c0209 a0004c0210 a0004c0235 a0047c0207 a0059c0222	a0004c0017t0002 a0004c0017t0007 a0004c0042t0007 others(19): Show a0004c0017t0002 a0004c0017t0007 a0004c0042t0007 a0004c0044t0001 a0004c0045t0008 a0004c0046t0020 a0004c0047t0001 a0004c0048t0002 a0004c0049t0004 a0004c0050t0002 a0004c0051t0001 a0004c0052t0001 a0004c0053t0003 a0004c0054t0003 a0004c0055t0005 a0004c0056t0003 a0004c0057t0006 a0004c0209t0002 a0004c0210t0002 a0004c0235t0012 a0047c0207t0028 a0059c0222t0005	a0004c0017t0002g0020 a0004c0017t0007g0128 a0004c0042t0007g0163 others(19): Show a0004c0017t0002g0020 a0004c0017t0007g0128 a0004c0042t0007g0163 a0004c0044t0001g0029 a0004c0045t0008g0050 a0004c0046t0020g0041 a0004c0047t0001g0202 a0004c0048t0002g0127 a0004c0049t0004g0134 a0004c0050t0002g0122 a0004c0051t0001g0241 a0004c0052t0001g0298 a0004c0053t0003g0177 a0004c0054t0003g0259 a0004c0055t0005g0248 a0004c0056t0003g0101 a0004c0057t0006g0013 a0004c0209t0002g0152 a0004c0210t0002g0166 a0004c0235t0012g0274 a0047c0207t0028g0243 a0059c0222t0005g0081	22	304	0.0724	1	c.101 others(5): Show c.1010dupC	p.Pro others(5): Show p.Pro338fs	TNRC18	ENSG00000182095.15	transcript	ENST00000430969.6	protein_coding	5/30	1647/10839	1010/8907	337/2968			chr7	TogoVar

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