Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF180_chr19_44469443_44505522	44488116	GTCTCCCT others(99): Show GTCTCCCTCTCCTTCTCTTTCCACGGTCTCCCTCTCCCTCTCTTTCCACG GTCTCCCTCTCCTTCTCTTTCCACGGTCTCCCTCTCCCTCTCTTTCCACG GTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00642.hp1 others(38): Show HG00423.hp1 HG00621.hp1 HG00642.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18985.hp1 NA18988.hp2 NA18993.hp2 NA18999.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19076.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA20805.hp2 NA21309.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0003c0012 a0013c0013 a0003c0004 a0003c0012 a0013c0013	a0003c0004t0004 a0003c0004t0011 a0003c0004t0017 others(3): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0017 a0003c0004t0021 a0003c0012t0004 a0013c0013t0004	a0003c0004t0004g0012 a0003c0004t0004g0026 a0003c0004t0004g0027 others(30): Show a0003c0004t0004g0012 a0003c0004t0004g0026 a0003c0004t0004g0027 a0003c0004t0004g0028 a0003c0004t0004g0030 a0003c0004t0004g0065 a0003c0004t0004g0066 a0003c0004t0004g0067 a0003c0004t0004g0069 a0003c0004t0004g0070 a0003c0004t0004g0071 a0003c0004t0004g0073 a0003c0004t0004g0074 a0003c0004t0004g0075 a0003c0004t0004g0078 a0003c0004t0004g0079 a0003c0004t0004g0080 a0003c0004t0004g0081 a0003c0004t0004g0083 a0003c0004t0004g0085 a0003c0004t0004g0090 a0003c0004t0004g0091 a0003c0004t0004g0110 a0003c0004t0004g0140 a0003c0004t0004g0156 a0003c0004t0004g0157 a0003c0004t0004g0158 a0003c0004t0004g0188 a0003c0004t0011g0015 a0003c0004t0017g0068 a0003c0004t0021g0072 a0003c0012t0004g0064 a0013c0013t0004g0077	41	426	0.0962	-106	c.52- others(15): Show c.52-3787_52-3682del	ZNF180	ENSG00000167384.11	transcript	ENST00000592529.6	protein_coding	2/4			chr19	TogoVar
ZNF534_chr19_52424148_52447499	52445716	AATTTACT others(99): Show AATTTACTCTTGCAGTCATTCTGGAGCAAAAATTCATGATGCAGGACTCC ACACACTACTGTCCATCTGAGTGGAAGCTGCAAGTTAGTCCTGCCCTGCC ATCTGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.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 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0016 a0017 a0019 a0022 a0023	a0001c0001 a0001c0016 a0003c0003 others(13): Show a0001c0001 a0001c0016 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006 a0009c0009 a0011c0011 a0012c0012 a0013c0019 a0016c0017 a0017c0015 a0019c0014 a0022c0013 a0023c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(76): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0016t0004 a0003c0003t0005 a0003c0003t0015 a0003c0003t0040 a0003c0003t0074 a0003c0003t0079 a0004c0004t0001 a0004c0004t0003 a0004c0004t0010 a0004c0004t0017 a0004c0004t0057 a0004c0004t0062 a0005c0005t0011 a0006c0007t0009 a0007c0006t0021 a0007c0006t0022 a0009c0009t0009 a0009c0009t0012 a0011c0011t0019 a0012c0012t0001 a0012c0012t0061 a0013c0019t0010 a0016c0017t0071 a0017c0015t0004 a0019c0014t0001 a0022c0013t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(271): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0104 a0001c0001t0003g0114 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0175 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0223 a0001c0001t0003g0243 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0043 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0080 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0115 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0226 a0001c0001t0004g0232 a0001c0001t0004g0247 a0001c0001t0007g0009 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0282 a0001c0001t0007g0284 a0001c0001t0007g0287 a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0262 a0001c0001t0008g0269 a0001c0001t0008g0288 a0001c0001t0009g0047 a0001c0001t0009g0259 a0001c0001t0010g0018 a0001c0001t0010g0130 a0001c0001t0010g0131 a0001c0001t0012g0045 a0001c0001t0012g0257 a0001c0001t0013g0009 a0001c0001t0013g0276 a0001c0001t0013g0277 a0001c0001t0013g0279 a0001c0001t0013g0281 a0001c0001t0016g0189 a0001c0001t0016g0190 a0001c0001t0016g0191 a0001c0001t0017g0056 a0001c0001t0017g0246 a0001c0001t0018g0024 a0001c0001t0018g0249 a0001c0001t0019g0017 a0001c0001t0020g0026 a0001c0001t0024g0230 a0001c0001t0024g0231 a0001c0001t0025g0003 a0001c0001t0025g0005 a0001c0001t0026g0002 a0001c0001t0026g0089 a0001c0001t0029g0047 a0001c0001t0029g0261 a0001c0001t0030g0268 a0001c0001t0030g0286 a0001c0001t0037g0139 a0001c0001t0038g0188 a0001c0001t0041g0076 a0001c0001t0042g0041 a0001c0001t0043g0127 a0001c0001t0044g0006 a0001c0001t0045g0220 a0001c0001t0046g0030 a0001c0001t0047g0106 a0001c0001t0048g0002 a0001c0001t0049g0120 a0001c0001t0050g0005 a0001c0001t0051g0227 a0001c0001t0052g0192 a0001c0001t0053g0103 a0001c0001t0054g0003 a0001c0001t0055g0203 a0001c0001t0056g0002 a0001c0001t0058g0003 a0001c0001t0059g0174 a0001c0001t0060g0002 a0001c0001t0063g0011 a0001c0001t0065g0069 a0001c0001t0066g0040 a0001c0001t0067g0041 a0001c0001t0068g0267 a0001c0001t0070g0256 a0001c0001t0072g0253 a0001c0001t0078g0283 a0001c0001t0080g0278 a0001c0001t0081g0015 a0001c0001t0082g0275 a0001c0001t0083g0285 a0001c0016t0004g0002 a0003c0003t0005g0039 a0003c0003t0005g0053 a0003c0003t0005g0059 a0003c0003t0005g0061 a0003c0003t0005g0062 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0005g0081 a0003c0003t0005g0095 a0003c0003t0005g0124 a0003c0003t0005g0125 a0003c0003t0005g0140 a0003c0003t0005g0170 a0003c0003t0005g0195 a0003c0003t0005g0202 a0003c0003t0005g0218 a0003c0003t0005g0302 a0003c0003t0015g0014 a0003c0003t0040g0171 a0003c0003t0074g0260 a0003c0003t0079g0270 a0004c0004t0001g0060 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0245 a0004c0004t0003g0088 a0004c0004t0010g0141 a0004c0004t0017g0063 a0004c0004t0057g0228 a0004c0004t0062g0163 a0005c0005t0011g0044 a0006c0007t0009g0052 a0006c0007t0009g0290 a0006c0007t0009g0291 a0006c0007t0009g0293 a0007c0006t0021g0051 a0007c0006t0021g0273 a0007c0006t0022g0105 a0007c0006t0022g0132 a0009c0009t0009g0298 a0009c0009t0012g0046 a0011c0011t0019g0017 a0012c0012t0001g0201 a0012c0012t0061g0301 a0013c0019t0010g0160 a0016c0017t0071g0251 a0017c0015t0004g0234 a0019c0014t0001g0145 a0022c0013t0001g0153 a0023c0018t0001g0250	366	466	0.7854	-106	c.62 others(11): Show c.6271_*6376del	ZNF534	ENSG00000198633.11	transcript	ENST00000433050.6	protein_coding		3218		chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862404	ATATATAT others(99): Show ATATATATGTAATATAATATATATATTATATATATGTAATATAATATATA TATTATATATATGTAATATAATATATATATTATATATATGTAATATAATA TATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	306	0.0033	-106	c.39 others(11): Show c.3972_*4077del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3738		chr19	TogoVar
ABCA1_chr9_104776006_104933155	104862638	CCGGGCCG others(98): Show CCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG CCGGGCCGGGCCGGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00673.hp1 others(53): Show HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp2	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0020 a0028 a0030	a0002c0011 a0003c0002 a0003c0009 others(19): Show a0002c0011 a0003c0002 a0003c0009 a0004c0112 a0004c0113 a0004c0114 a0006c0004 a0008c0006 a0009c0018 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0011c0040 a0011c0041 a0013c0013 a0014c0023 a0014c0053 a0016c0019 a0020c0106 a0028c0050 a0030c0101	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(36): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0009t0003 a0003c0009t0006 a0003c0009t0051 a0004c0112t0005 a0004c0113t0002 a0004c0114t0005 a0006c0004t0005 a0006c0004t0042 a0008c0006t0005 a0008c0006t0012 a0009c0018t0003 a0009c0018t0038 a0009c0027t0006 a0009c0028t0048 a0010c0007t0003 a0010c0030t0001 a0011c0040t0029 a0011c0041t0002 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0016c0019t0018 a0020c0106t0001 a0028c0050t0001 a0030c0101t0001	a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 others(53): Show a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0007g0119 a0002c0011t0007g0159 a0002c0011t0012g0135 a0002c0011t0020g0226 a0003c0002t0002g0037 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0070 a0003c0002t0002g0071 a0003c0002t0002g0122 a0003c0002t0002g0127 a0003c0002t0002g0227 a0003c0002t0002g0239 a0003c0002t0002g0261 a0003c0002t0003g0128 a0003c0002t0007g0058 a0003c0002t0010g0184 a0003c0002t0014g0067 a0003c0002t0028g0175 a0003c0009t0003g0074 a0003c0009t0003g0140 a0003c0009t0003g0233 a0003c0009t0006g0241 a0003c0009t0051g0148 a0004c0112t0005g0101 a0004c0113t0002g0205 a0004c0114t0005g0305 a0006c0004t0005g0262 a0006c0004t0042g0179 a0008c0006t0005g0063 a0008c0006t0012g0082 a0009c0018t0003g0160 a0009c0018t0038g0283 a0009c0027t0006g0279 a0009c0028t0048g0296 a0010c0007t0003g0152 a0010c0030t0001g0050 a0011c0040t0029g0002 a0011c0041t0002g0285 a0013c0013t0002g0176 a0013c0013t0003g0120 a0013c0013t0003g0170 a0013c0013t0003g0263 a0013c0013t0025g0029 a0013c0013t0025g0030 a0014c0023t0007g0117 a0014c0023t0017g0106 a0014c0023t0036g0105 a0014c0053t0002g0149 a0016c0019t0018g0132 a0016c0019t0018g0232 a0020c0106t0001g0096 a0028c0050t0001g0212 a0030c0101t0001g0309	56	316	0.1772	-105	c.422 others(15): Show c.422-943_422-839del	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ACAP3_chr1_1287391_1312930	1289767	CCGTGTCT others(98): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	294	0.0034	-105	c.36 others(11): Show c.3692_*3796del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2623		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1327013	TCCCCACG others(98): Show TCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAG CGCCTCCCCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCCCACGGC ACAGCG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18984.hp2 NA18982.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0057 a0001c0001t0003 a0001c0001t0057	a0001c0001t0003g0098 a0001c0001t0057g0103 a0001c0001t0003g0098 a0001c0001t0057g0103	2	106	0.0189	-105	c.107 others(21): Show c.1077+35910_1077+36014del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113412843	CGCCCCGC others(98): Show CGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTC GGTTCACCCACCGCCAACAGCACCCCGCAGAACTCGGTTCACCCACCGCC AACAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03491.hp1 HG03710.hp1 HG01884.hp2 HG03491.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0021 a0002c0039 a0002c0002 a0002c0021 a0002c0039	a0002c0002t0003 a0002c0021t0003 a0002c0039t0073 a0002c0002t0003 a0002c0021t0003 a0002c0039t0073	a0002c0002t0003g0216 a0002c0021t0003g0173 a0002c0039t0073g0059 a0002c0002t0003g0216 a0002c0021t0003g0173 a0002c0039t0073g0059	3	242	0.0124	-105	c.106 others(19): Show c.1062-4728_1062-4624del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ALDH1L2_chr12_105014790_105089458	105035914	ATATATAT others(98): Show ATATATATACATATATTTATATGTGTATATATATTATATATATACGTATA TTTATATGTGTATATATATTATATATATACGTATATTTATATATGTGTAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02970.hp2 others(1): Show HG01891.hp1 HG02486.hp2 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0012 a0001c0001t0027	a0001c0001t0012g0027 a0001c0001t0012g0028 a0001c0001t0012g0361 others(1): Show a0001c0001t0012g0027 a0001c0001t0012g0028 a0001c0001t0012g0361 a0001c0001t0027g0212	4	352	0.0114	-105	c.214 others(19): Show c.2146-1621_2146-1517del	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALPG_chr2_232401844_232415714	232414532	CCATCCTG others(98): Show CCATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAA AAAAAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	432	0.0023	-105	c.46 others(11): Show c.4661_*4765del	ALPG	ENSG00000163286.9	transcript	ENST00000295453.8	protein_coding		3819		chr2	TogoVar
AMTN_chr4_70513569_70537743	70516302	ATATATAT others(98): Show ATATATATATATATATATATATACGTATATATATATATACGTATATATAT ACATATATATGTATATATATACATGTATATATATACGTATATATATATAT ACGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02647.hp2 HG02965.hp1 HG02970.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0015 a0001c0002t0001g0017	4	321	0.0125	-105	c.-23 others(11): Show c.-2367_-2263del	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2266		chr4	TogoVar
ANO9_chr11_412938_447011	425102	AGACGGGA others(98): Show AGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGG GAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCG TGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02970.hp2 others(2): Show HG01109.hp1 HG02257.hp1 HG02970.hp2 HG03130.hp2 HG03579.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0007c0012t0001 a0001c0001t0001 a0001c0001t0003 a0007c0012t0001	a0001c0001t0001g0272 a0001c0001t0003g0009 a0007c0012t0001g0190 others(2): Show a0001c0001t0001g0272 a0001c0001t0003g0009 a0007c0012t0001g0190 a0007c0012t0001g0191 a0007c0012t0001g0192	5	284	0.0176	-105	c.133 others(19): Show c.1334+2881_1334+2985del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ANO9_chr11_412938_447011	425155	GAAAAGGC others(98): Show GAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGG AGCGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGC GGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02895.hp2 others(1): Show HG01243.hp1 HG02055.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0193 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252	4	284	0.0141	-105	c.133 others(19): Show c.1334+2828_1334+2932del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
AP3S2_chr15_89825599_89898994	89854805	CGGCCCCC others(98): Show CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGG GGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 NA18906.hp2 HG02559.hp2 HG02970.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0291 a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0291	3	161	0.0186	-105	c.345 others(19): Show c.345+16565_345+16669del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APOB_chr2_20996429_21049073	21001099	ATTTAATT others(98): Show ATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTA ATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTAT AAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0053 a0002c0016t0001g0053	1	348	0.0029	-105	c.52 others(9): Show c.526_*630del	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		329		chr2	TogoVar
ASAP1_chr8_130047104_130448674	130049536	TGGGGGGC others(98): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCA GAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAA CACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18982.hp1 NA18948.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0273 a0002c0002t0003g0275 a0002c0002t0003g0273 a0002c0002t0003g0275	2	278	0.0072	-105	c.50 others(11): Show c.5090_*5194del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2567		chr8	TogoVar
ASMTL_chrX_1398139_1457909	1408123	CGCAGGAG others(98): Show CGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAG CCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGC TTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0107 a0002c0004t0001g0107	1	118	0.0085	-105	c.164 others(19): Show c.1645+4504_1645+4608del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408377	CTCCAGCC others(98): Show CTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAG GATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACA CTGCAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG01891.hp2 HG03195.hp1	a0002 a0012 a0002 a0012	a0002c0013 a0012c0025 a0002c0013 a0012c0025	a0002c0013t0001 a0012c0025t0001 a0002c0013t0001 a0012c0025t0001	a0002c0013t0001g0180 a0012c0025t0001g0164 a0002c0013t0001g0180 a0012c0025t0001g0164	2	181	0.0110	-105	c.164 others(19): Show c.1645+4250_1645+4354del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408439	GCAGGAGG others(98): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0020 a0002c0004t0001g0020	1	168	0.0060	-105	c.164 others(19): Show c.1645+4188_1645+4292del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409443	CTACTCCC others(98): Show CTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAG GAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCACTCCAGCCAAA TGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0164 a0012c0025t0001g0164	1	171	0.0058	-105	c.164 others(19): Show c.1645+3184_1645+3288del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ATP11A_chr13_112685038_112892168	112804084	TCCCCTCT others(98): Show TCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCC CCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCC CCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0087 a0001c0005t0001g0087	1	246	0.0041	-105	c.163 others(15): Show c.163-872_163-768del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50086839	ATTATTAT others(98): Show ATTATTATATATAATAAAATAATATAGAGATCTATATTTATTATATATAA TAAAATAATAGAGATCTATATTATTATATATAATAAAATAATATAGAGAT CTATAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18995.hp2 NA19043.hp2 NA18960.hp1 NA18995.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0010 a0001c0001t0002 a0002c0002t0010	a0001c0001t0002g0032 a0001c0001t0002g0045 a0002c0002t0010g0091 a0001c0001t0002g0032 a0001c0001t0002g0045 a0002c0002t0010g0091	3	226	0.0133	-105	c.29- others(17): Show c.29-12759_29-12655del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
BBS4_chr15_72681207_72743473	72725831	ATCCCCCT others(98): Show ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTT TCCCCT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	389	0.0026	-105	c.587 others(17): Show c.587+1190_587+1294del	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BDH1_chr3_197504783_197560968	197517518	CATCAGTC others(98): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCC CCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACC CCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	295	0.0034	-105	c.410 others(17): Show c.410-3207_410-3103del	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517719	AACCCCCT others(98): Show AACCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCTTCAGG CCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTC AGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	180	0.0056	-105	c.410 others(17): Show c.410-3408_410-3304del	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BICD1_chr12_32101847_32388633	32290121	AAGCATTC others(98): Show AAGCATTCTGAATAACAAGGAGCTCCAACCCCTTATATATAAATGAGGTT ACATATAGTAGGTTGAAAGCAGGTTTCCAAAACAACCAATTAGTTTGTAT AGCTTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01261.hp2 others(41): Show HG00323.hp2 HG00642.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02809.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19011.hp2 NA19030.hp1 NA19064.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(21): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0037 a0001c0002t0046 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052	a0001c0001t0003g0246 a0001c0001t0006g0158 a0001c0001t0007g0146 others(41): Show a0001c0001t0003g0246 a0001c0001t0006g0158 a0001c0001t0007g0146 a0001c0001t0008g0124 a0001c0001t0011g0269 a0001c0001t0017g0095 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0024g0209 a0001c0001t0060g0244 a0001c0002t0001g0178 a0001c0002t0002g0049 a0001c0002t0002g0066 a0001c0002t0002g0074 a0001c0002t0002g0195 a0001c0002t0002g0208 a0001c0002t0002g0223 a0001c0002t0002g0227 a0001c0002t0002g0241 a0001c0002t0002g0253 a0001c0002t0002g0276 a0001c0002t0003g0147 a0001c0002t0003g0168 a0001c0002t0003g0234 a0001c0002t0005g0009 a0001c0002t0005g0106 a0001c0002t0005g0111 a0001c0002t0005g0134 a0001c0002t0005g0250 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0248 a0001c0002t0025g0069 a0001c0002t0025g0071 a0001c0002t0026g0014 a0001c0002t0027g0120 a0001c0002t0037g0094 a0001c0002t0046g0262 a0001c0003t0013g0062 a0001c0003t0013g0192 a0001c0003t0033g0137 a0001c0003t0042g0274 a0001c0003t0052g0286	44	288	0.1528	-105	c.427 others(17): Show c.427-3869_427-3765del	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BPHL_chr6_3113711_3158578	3145688	GAGTGCTG others(98): Show GAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGTTTGG GTCGAGTGCTGGTTTGGGTCGAGTGCTGGTTCAGGTTGGAGTGCTGGTTC CGGCTA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	347	0.0029	-105	c.788 others(17): Show c.788+5180_788+5284del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
BRSK2_chr11_1384934_1467689	1394817	ATGGAGAT others(98): Show ATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCCCTGGAGATGG GCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCATGGAGAT GGGTCC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0288 a0001c0003t0003g0288	1	355	0.0028	-105	c.91+ others(15): Show c.91+4519_91+4623del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C14orf39_chr14_60430956_60491063	60460070	GTTTTTGT others(98): Show GTTTTTGTCTCTTACATTTAAGTCATAGGTATTATTTTTACCACATATTA ATTCTTCAAAAGCTGGGTTTGAAAATTATTGAAAAAAATTTTAAGTTCCA AAATAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG01081.hp2 HG02622.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0012 a0003c0004 a0008c0012	a0003c0004t0001 a0008c0012t0001 a0003c0004t0001 a0008c0012t0001	a0003c0004t0001g0152 a0008c0012t0001g0153 a0003c0004t0001g0152 a0008c0012t0001g0153	2	292	0.0068	-105	c.111 others(19): Show c.1117+1179_1117+1283del	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding	13/17			chr14	TogoVar
CAB39L_chr13_49303650_49449064	49318520	GGGAAAGG others(98): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01192.hp2 others(12): Show HG01071.hp1 HG01081.hp2 HG01192.hp2 HG01496.hp1 HG02109.hp1 HG02647.hp2 HG03195.hp2 HG03704.hp1 HG03831.hp2 NA18965.hp2 NA18973.hp1 NA18994.hp2 NA19004.hp2 NA19087.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0169 a0001c0001t0002g0208 a0001c0001t0002g0210 others(12): Show a0001c0001t0002g0169 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0002t0001g0089 a0001c0002t0002g0108 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0192 a0001c0002t0002g0220 a0001c0002t0002g0257 a0001c0002t0002g0287	15	319	0.0470	-105	c.835 others(17): Show c.835-7632_835-7528del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA1C_chr12_2047987_2702950	2105712	GGGCATCG others(98): Show GGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCA GCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACC TCAGCT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp2 HG01993.hp1 others(5): Show HG01071.hp1 HG01891.hp2 HG01993.hp1 HG02273.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0031 a0004c0034	a0001c0001t0001 a0001c0003t0008 a0001c0003t0037 others(4): Show a0001c0001t0001 a0001c0003t0008 a0001c0003t0037 a0001c0004t0023 a0001c0012t0007 a0001c0031t0002 a0004c0034t0009	a0001c0001t0001g0034 a0001c0003t0008g0062 a0001c0003t0008g0064 others(5): Show a0001c0001t0001g0034 a0001c0003t0008g0062 a0001c0003t0008g0064 a0001c0003t0037g0003 a0001c0004t0023g0033 a0001c0012t0007g0046 a0001c0031t0002g0029 a0004c0034t0009g0041	8	104	0.0769	-105	c.50- others(15): Show c.50-9509_50-9405del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNB4_chr2_151827771_152104044	152074609	CCATCACC others(98): Show CCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCTAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02559.hp2 others(7): Show HG01884.hp1 HG02451.hp1 HG02559.hp2 HG02717.hp1 HG02896.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 a0001c0003t0007 a0001c0003t0015 a0001c0003t0016	a0001c0001t0002g0139 a0001c0001t0004g0086 a0001c0001t0005g0004 others(7): Show a0001c0001t0002g0139 a0001c0001t0004g0086 a0001c0001t0005g0004 a0001c0001t0005g0229 a0001c0001t0022g0141 a0001c0001t0025g0227 a0001c0003t0007g0089 a0001c0003t0007g0140 a0001c0003t0015g0087 a0001c0003t0016g0088	10	141	0.0709	-105	c.147 others(19): Show c.147+23616_147+23720del	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG8_chr19_53957937_53995215	53962358	GAGCGGTG others(98): Show GAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA ATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00621.hp1 others(130): Show HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18952.hp2 NA18959.hp2 NA18970.hp2 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18993.hp2 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0079 a0001c0001t0084 a0001c0001t0090 a0001c0001t0091 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0113 a0001c0001t0121 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0002t0009 a0001c0002t0011	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(114): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0001 a0001c0001t0002g0102 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0003g0033 a0001c0001t0003g0101 a0001c0001t0003g0238 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0056 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0078 a0001c0001t0004g0124 a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0020 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0107 a0001c0001t0005g0138 a0001c0001t0008g0002 a0001c0001t0008g0031 a0001c0001t0008g0106 a0001c0001t0008g0109 a0001c0001t0008g0130 a0001c0001t0008g0132 a0001c0001t0008g0137 a0001c0001t0008g0202 a0001c0001t0009g0013 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0010g0006 a0001c0001t0010g0062 a0001c0001t0010g0085 a0001c0001t0010g0157 a0001c0001t0012g0002 a0001c0001t0012g0016 a0001c0001t0013g0025 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0015g0006 a0001c0001t0015g0084 a0001c0001t0015g0159 a0001c0001t0018g0002 a0001c0001t0018g0020 a0001c0001t0020g0006 a0001c0001t0020g0162 a0001c0001t0020g0163 a0001c0001t0022g0050 a0001c0001t0022g0052 a0001c0001t0022g0053 a0001c0001t0024g0049 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0028g0126 a0001c0001t0029g0226 a0001c0001t0030g0256 a0001c0001t0031g0086 a0001c0001t0031g0261 a0001c0001t0033g0231 a0001c0001t0039g0024 a0001c0001t0040g0072 a0001c0001t0040g0143 a0001c0001t0041g0134 a0001c0001t0043g0048 a0001c0001t0046g0040 a0001c0001t0048g0043 a0001c0001t0051g0022 a0001c0001t0054g0155 a0001c0001t0055g0110 a0001c0001t0058g0214 a0001c0001t0062g0073 a0001c0001t0063g0158 a0001c0001t0064g0160 a0001c0001t0066g0091 a0001c0001t0067g0093 a0001c0001t0079g0032 a0001c0001t0084g0019 a0001c0001t0090g0081 a0001c0001t0091g0058 a0001c0001t0097g0142 a0001c0001t0099g0002 a0001c0001t0100g0032 a0001c0001t0103g0115 a0001c0001t0104g0092 a0001c0001t0105g0094 a0001c0001t0107g0064 a0001c0001t0113g0100 a0001c0001t0121g0061 a0001c0001t0126g0002 a0001c0001t0127g0047 a0001c0001t0129g0002 a0001c0002t0009g0125 a0001c0002t0009g0127 a0001c0002t0011g0035	133	382	0.3482	-105	c.-78 others(9): Show c.-784_-680del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		578		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962615	CGACTTTC others(98): Show CGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTA TTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGG TGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG03130.hp2 others(1): Show HG02895.hp2 HG02922.hp1 HG03130.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0076 a0001c0001t0081 others(1): Show a0001c0001t0043 a0001c0001t0076 a0001c0001t0081 a0001c0001t0132	a0001c0001t0043g0187 a0001c0001t0076g0183 a0001c0001t0081g0203 others(1): Show a0001c0001t0043g0187 a0001c0001t0076g0183 a0001c0001t0081g0203 a0001c0001t0132g0188	4	235	0.0170	-105	c.-52 others(9): Show c.-527_-423del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		321		chr19	TogoVar
CANT1_chr17_78986716_79014764	79004349	GGAGAGGG others(98): Show GGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGG GGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTA AGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	389	0.0026	-105	c.-14 others(19): Show c.-147+5210_-147+5314del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CD44_chr11_35134171_35237402	35140929	GAGAATTG others(98): Show GAGAATTGCTTGAACCTAGGAGGTGAAGGTTGCAGTGAACCAAGATTATG CCATTGCACTCCAGCCTGGGTGACAAAGCGTGACTCTGTTAAAAAAAAAA AAATGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0245 a0002c0003t0001g0246	2	376	0.0053	-105	c.67+ others(15): Show c.67+1561_67+1665del	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH15_chr16_89166748_89200492	89196353	CCCGGCCC others(98): Show CCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCTGTGGGACAGAGTGT GTTGGGGGCAGCCAGCCTCCTGGCCCAGGAACCCGGCCCCCAGCACCAGG CCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(36): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02015.hp2 HG02083.hp1 HG02132.hp2 HG02300.hp2 HG03491.hp1 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18949.hp1 NA18950.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19084.hp2	a0004 a0005 a0020 others(2): Show a0004 a0005 a0020 a0021 a0023	a0004c0005 a0005c0006 a0020c0036 others(2): Show a0004c0005 a0005c0006 a0020c0036 a0021c0045 a0023c0037	a0004c0005t0001 a0005c0006t0001 a0020c0036t0001 others(2): Show a0004c0005t0001 a0005c0006t0001 a0020c0036t0001 a0021c0045t0001 a0023c0037t0001	a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 others(26): Show a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0166 a0004c0005t0001g0254 a0004c0005t0001g0255 a0004c0005t0001g0256 a0004c0005t0001g0290 a0004c0005t0001g0291 a0004c0005t0001g0292 a0004c0005t0001g0293 a0005c0006t0001g0013 a0005c0006t0001g0014 a0005c0006t0001g0036 a0005c0006t0001g0160 a0005c0006t0001g0161 a0005c0006t0001g0162 a0005c0006t0001g0167 a0005c0006t0001g0169 a0005c0006t0001g0170 a0005c0006t0001g0257 a0020c0036t0001g0168 a0021c0045t0001g0106 a0023c0037t0001g0156	39	404	0.0965	-105	c.11 others(11): Show c.1199_*1303del	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding		862		chr16	TogoVar
CDNF_chr10_14814245_14843037	14820348	TCAGTGGG others(98): Show TCAGTGGGTTCTGCATCTGCAGATTCAACCAACAGCAGATCAAAAATATT CTAAACAAATTAAAGATAACACTACAACAATTAAAAAATACAAACAGGGC TGGGCA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	416	0.0024	-105	c.386 others(15): Show c.386-295_386-191del	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	3/3			chr10	TogoVar
CELF4_chr18_37238040_37570798	37337987	CCATTGTC others(98): Show CCATTGTCATCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02258.hp2 others(4): Show HG01496.hp2 HG02257.hp1 HG02258.hp2 HG02897.hp2 HG03225.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0002t0011	a0001c0001t0007g0061 a0001c0001t0007g0112 a0001c0001t0008g0137 others(4): Show a0001c0001t0007g0061 a0001c0001t0007g0112 a0001c0001t0008g0137 a0001c0001t0009g0046 a0001c0001t0026g0022 a0001c0002t0011g0135 a0001c0002t0011g0175	7	133	0.0526	-105	c.370 others(19): Show c.370-16211_370-16107del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338133	GCTGCCAC others(98): Show GCTGCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACAC CATTGTCACCACTATCATTGTCACCACTACTGTCACTGCCACCACCACCA CTGTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(67): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG04199.hp1 NA18906.hp2 NA18961.hp1 NA18964.hp1 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0022 a0001c0002t0036 a0001c0003t0035	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0089 others(67): Show a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0169 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0155 a0001c0001t0003g0183 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0042 a0001c0001t0005g0110 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0007g0059 a0001c0001t0007g0096 a0001c0001t0007g0120 a0001c0001t0007g0128 a0001c0001t0009g0010 a0001c0001t0009g0018 a0001c0001t0009g0033 a0001c0001t0010g0116 a0001c0001t0011g0058 a0001c0001t0011g0176 a0001c0001t0012g0026 a0001c0001t0012g0032 a0001c0001t0014g0007 a0001c0001t0015g0038 a0001c0001t0016g0070 a0001c0001t0017g0040 a0001c0001t0020g0057 a0001c0001t0021g0077 a0001c0001t0021g0078 a0001c0001t0023g0121 a0001c0001t0028g0027 a0001c0001t0031g0034 a0001c0002t0001g0052 a0001c0002t0004g0020 a0001c0002t0005g0068 a0001c0002t0005g0082 a0001c0002t0005g0099 a0001c0002t0010g0055 a0001c0002t0010g0063 a0001c0002t0010g0094 a0001c0002t0015g0006 a0001c0002t0022g0156 a0001c0002t0022g0180 a0001c0002t0036g0150 a0001c0003t0035g0111	70	182	0.3846	-105	c.370 others(19): Show c.370-16357_370-16253del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338238	ACTGCCAC others(98): Show ACTGCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACAC CATTGTCACCACTATCATTGTCACCACTACTGTCACTGCCACCACCACCA CTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02258.hp2 others(4): Show HG01496.hp2 HG02257.hp1 HG02258.hp2 HG02897.hp2 HG03225.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0002t0011	a0001c0001t0007g0061 a0001c0001t0007g0112 a0001c0001t0008g0137 others(4): Show a0001c0001t0007g0061 a0001c0001t0007g0112 a0001c0001t0008g0137 a0001c0001t0009g0046 a0001c0001t0026g0022 a0001c0002t0011g0135 a0001c0002t0011g0175	7	110	0.0636	-105	c.370 others(19): Show c.370-16462_370-16358del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CEP131_chr17_81184596_81227965	81209643	GCGCTCGG others(98): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01074.hp2 others(25): Show HG00099.hp2 HG00673.hp2 HG01074.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG02145.hp1 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03688.hp1 HG06807.hp2 NA18944.hp2 NA18982.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19079.hp2 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0004 a0002c0002 a0004c0005 others(4): Show a0001c0004 a0002c0002 a0004c0005 a0004c0044 a0004c0045 a0007c0009 a0008c0010	a0001c0004t0001 a0002c0002t0001 a0004c0005t0001 others(4): Show a0001c0004t0001 a0002c0002t0001 a0004c0005t0001 a0004c0044t0011 a0004c0045t0001 a0007c0009t0001 a0008c0010t0001	a0001c0004t0001g0025 a0001c0004t0001g0268 a0001c0004t0001g0269 others(23): Show a0001c0004t0001g0025 a0001c0004t0001g0268 a0001c0004t0001g0269 a0001c0004t0001g0270 a0001c0004t0001g0271 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0292 a0001c0004t0001g0298 a0001c0004t0001g0299 a0002c0002t0001g0024 a0004c0005t0001g0278 a0004c0005t0001g0296 a0004c0044t0011g0297 a0004c0045t0001g0280 a0007c0009t0001g0259 a0007c0009t0001g0260 a0007c0009t0001g0261 a0007c0009t0001g0262 a0007c0009t0001g0265 a0007c0009t0001g0279 a0007c0009t0001g0283 a0008c0010t0001g0287	28	382	0.0733	-105	c.178 others(15): Show c.178-726_178-622del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209789	GGAGAAGC others(98): Show GGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCT AAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC CGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02040.hp1 HG02083.hp1 others(7): Show HG01943.hp2 HG02040.hp1 HG02083.hp1 HG02895.hp2 HG03041.hp1 HG03453.hp1 NA18964.hp2 NA19012.hp2 NA19060.hp1 NA19091.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0003 a0004c0005 others(3): Show a0001c0001 a0001c0003 a0004c0005 a0016c0038 a0016c0040 a0016c0042	a0001c0001t0001 a0001c0003t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0004c0005t0001 a0016c0038t0001 a0016c0040t0001 a0016c0042t0001	a0001c0001t0001g0017 a0001c0001t0001g0168 a0001c0001t0001g0169 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0223 a0001c0003t0001g0293 a0004c0005t0001g0281 a0016c0038t0001g0243 a0016c0040t0001g0244 a0016c0042t0001g0245	10	382	0.0262	-105	c.178 others(15): Show c.178-872_178-768del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CFAP299_chr4_80330730_80968750	80799587	TTATATAA others(98): Show TTATATAAAATATATATTTTATATATTATATATTTATAAATATATAATAT ATAAAATATATATTTTATATATTATATTTTATAAATATATATTTATAAAT ATATAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00639.hp1 others(14): Show HG00408.hp1 HG00597.hp2 HG00639.hp1 HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1 NA18906.hp1 NA18957.hp2 NA18983.hp2 NA18998.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0020 a0002c0002t0001g0046 a0002c0005t0001g0058 a0002c0005t0001g0072 a0002c0005t0001g0076 a0002c0005t0001g0077 a0002c0006t0001g0034	17	89	0.1910	-105	c.334 others(19): Show c.334-70375_334-70271del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132918199	CCCCCTCT others(98): Show CCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGAC GCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGA TGAACG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19060.hp2 HG04228.hp1 NA19060.hp2	a0063 a0071 a0063 a0071	a0063c0067 a0071c0068 a0063c0067 a0071c0068	a0063c0067t0002 a0071c0068t0002 a0063c0067t0002 a0071c0068t0002	a0063c0067t0002g0013 a0071c0068t0002g0012 a0063c0067t0002g0013 a0071c0068t0002g0012	2	244	0.0082	-105	c.198 others(16): Show c.1986+89_1986+193del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1982076	CATGCGGG others(98): Show CATGCGGGGACACGCAGGACACCCAGCCACGGACAGACACGGTGACACAC AGGACACCCAGCCACGGACAGACACGGGGACACACAGGACACCCAGCCAC GGACAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp2 HG02080.hp1 others(18): Show HG01243.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG03486.hp2 HG03540.hp1 NA18747.hp1 NA18947.hp1 NA18954.hp1 NA18960.hp2 NA18969.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0010 a0013 a0024 a0031 a0040	a0001c0015 a0001c0039 a0003c0004 others(10): Show a0001c0015 a0001c0039 a0003c0004 a0003c0074 a0003c0076 a0006c0026 a0006c0027 a0006c0037 a0010c0053 a0013c0046 a0024c0100 a0031c0059 a0040c0038	a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 others(11): Show a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 a0003c0004t0002 a0003c0074t0002 a0003c0076t0002 a0006c0026t0002 a0006c0027t0001 a0006c0037t0001 a0010c0053t0001 a0013c0046t0001 a0024c0100t0002 a0031c0059t0001 a0040c0038t0003	a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0001g0189 others(18): Show a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0001g0189 a0001c0015t0006g0243 a0001c0039t0001g0063 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0065 a0003c0004t0002g0070 a0003c0074t0002g0033 a0003c0076t0002g0069 a0006c0026t0002g0011 a0006c0026t0002g0110 a0006c0027t0001g0266 a0006c0027t0001g0269 a0006c0037t0001g0267 a0010c0053t0001g0219 a0013c0046t0001g0087 a0024c0100t0002g0028 a0031c0059t0001g0025 a0040c0038t0003g0251	21	275	0.0764	-105	c.500 others(17): Show c.500+3205_500+3309del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160234	AGGGCCCC others(98): Show AGGGCCCCAGCCAGAGAAGGAGAGCCCCAGCCAGGGAAGGGCCCCAGCCA GAGAAGAAGAACCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCA GCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02630.hp2 others(7): Show HG02055.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0012 a0001c0014 a0002c0012	a0001c0014t0001 a0001c0014t0011 a0001c0014t0032 others(3): Show a0001c0014t0001 a0001c0014t0011 a0001c0014t0032 a0001c0014t0080 a0002c0012t0001 a0002c0012t0024	a0001c0014t0001g0051 a0001c0014t0011g0040 a0001c0014t0032g0304 others(7): Show a0001c0014t0001g0051 a0001c0014t0011g0040 a0001c0014t0032g0304 a0001c0014t0032g0305 a0001c0014t0080g0307 a0002c0012t0001g0039 a0002c0012t0001g0050 a0002c0012t0024g0302 a0002c0012t0024g0306 a0002c0012t0024g0312	10	318	0.0314	-105	c.208 others(15): Show c.208-824_208-720del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHST8_chr19_33616953_33778506	33758933	GGTGCTCA others(98): Show GGTGCTCAAAGAGCTTTTACTCATGGCAGCGGGCAAGCGGGAGTGTGCGT GTCACCTGGTGAAAGCAGGAACAAAGGGTGAGACTTGGGGGCAGGCGGTG CCACAC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	252	0.0040	-105	c.131 others(19): Show c.131-12479_131-12375del	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CNST_chr1_246561456_246673595	246620337	GCATACAC others(98): Show GCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAG TCGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCT TCAGTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(115): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19070.hp2 NA19079.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0009 a0001c0012 others(4): Show a0001c0001 a0001c0009 a0001c0012 a0002c0002 a0003c0003 a0005c0010 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0009t0001 a0001c0012t0002 a0002c0002t0002 a0002c0002t0006 a0003c0003t0004 a0005c0010t0002 a0007c0005t0023	a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0001g0154 others(115): Show a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0003g0221 a0001c0001t0003g0292 a0001c0001t0003g0295 a0001c0001t0004g0018 a0001c0001t0004g0044 a0001c0001t0004g0100 a0001c0001t0004g0134 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0273 a0001c0001t0005g0152 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0008g0022 a0001c0001t0011g0210 a0001c0001t0011g0220 a0001c0001t0013g0194 a0001c0001t0016g0133 a0001c0001t0018g0254 a0001c0001t0024g0270 a0001c0001t0025g0286 a0001c0009t0001g0189 a0001c0012t0002g0276 a0002c0002t0002g0249 a0002c0002t0006g0031 a0002c0002t0006g0032 a0003c0003t0004g0160 a0005c0010t0002g0030 a0007c0005t0023g0045	118	317	0.3722	-105	c.380 others(16): Show c.380-1091_380-987del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
COL26A1_chr7_101357875_101564024	101489645	CTTTCTTT others(98): Show CTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCT TTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTT CTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0088 a0001c0005t0008g0088	1	172	0.0058	-105	c.385 others(19): Show c.385+41860_385+41964del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489651	TTCTTTCT others(98): Show TTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGT CTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCT TGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19005.hp2 HG02071.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0114 a0002c0003t0001g0074 a0001c0001t0002g0114 a0002c0003t0001g0074	2	161	0.0124	-105	c.385 others(19): Show c.385+41877_385+41981del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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