Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PSORS1C1_chr6_31109800_31145092	31138723	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0006c0013 a0004c0005 a0006c0006 a0006c0013	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 others(4): Show a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0006 a0004c0005t0021 a0006c0006t0004 a0006c0013t0019	a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0169 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0186 a0004c0005t0003g0189 a0004c0005t0005g0226 a0004c0005t0006g0024 a0004c0005t0006g0163 a0004c0005t0006g0164 a0004c0005t0006g0165 a0004c0005t0021g0235 a0006c0006t0004g0002 a0006c0006t0004g0018 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0221 a0006c0006t0004g0222 a0006c0006t0004g0223 a0006c0013t0019g0225	57	414	0.1377	1	c.118 others(4): Show c.118dupC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	439/939	119/459	40/152		INFO_REALIGN_3_PRIME	chr6	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
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
RAD1_chr5_34900260_34920504	34911795	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0066 a0005c0007t0014g0066	1	430	0.0023	0	c.325 others(3): Show c.325C>T	p.Arg others(4): Show p.Arg109*	RAD1	ENSG00000113456.20	transcript	ENST00000382038.7	protein_coding	4/6	483/4512	325/849	109/282			chr5	TogoVar
RAMACL_chr6_166578009_166591678	166585488	TCAAACAA others(1183): Show TCAAACAAGTCTTTTTTTTTTTTTTTTTTTTTCCTTATTTTACAGCTTTA TTACTGATTTCCCTCTAAAAAGAGACTCAAGTGTGGAGCTGACTCATCTA TAGATTAAGGAATCACAAAGTACCATAGTCACTTAACAAATGCAAAAAAA AAAAAAAGCAATTGTTTTACCTTTCAACTGCTGATGTTATGTACAATCTA TCACAAAAAGCATAGCTGTGCATTCATGAGCTGATTATATCAACCTCTAG AATTTTAGAAACGAGCACATCTAAGCATATGGATACTCTCTTACCTTACA AAGTAAAAGCATTTTCTATTTTAAAATTTTTATTTCTGTGTAAAACAAAG AATTCCTAGAGGTCAAATAATATACCAAACTTAAAGCACTATTAAGTCAT GAAACAAAGAAGATTCTGAGGTAGAAGTCAAGCAATATAATCCACAGTTT CAGGTATTCCCAGCAACCATCGCATTTCGCAAGTAAGATCTATTTTTTTT AAAGTCTCAACTTCCAAAAAATCAATAATCCATTCTGTAAAATCAGATGT AAAACTATGACCAACAGAAGACACCCAAACTTTTCTCATGGTAACAGAGT AAATGCTTTTACTAAAAGCTGCCAACATTTCTATCAGTAGTAACCGTAAG GAGGCCGCTGGTTGTAACCATAATGTCCATATTGCTGGGGATAGTAAGGT TCTTGTCTGTGTTGCGGGTAGTTGTTACCCCAGGATCGTCCATGCCACTG ATTGGATCGATTGTCACTTGGCCACCCCCATCTGTTGTCCCTGCCTCTGA ACTGTCTGTTGTCTTGCAACCGATTGCCTCTGTTTCTTTGGTTCCCACCA GCTCTGCTATTCCATTCCTCAACAATTGGAGGAGACTCAGGAGGGCGTTT CAGGTATTCCTGATACTCCTTGTCATTTTCTGTGAATCTACTAGCAAACA TCTCTTCAAAATTTGGAACAGCTTCGGCAGTGTCAGTCATTCTGAAAATC CCAAAGGTTTGAGGCAGCTGTATTGCTTAATGTTTAGGTTGTTTAAATCC GCCAAGGGCTATGTCTATCCAGCTCAGGCCGAACCCCGCCGGCGAGACAC TGAGAAGCCCAGGAGAGGTGGCCTCTGGTCCACTACACCGTGGAACTCCA GACCACTCCAGTTCTCCAATGTAACCGAGCGCCTTCCTCTC	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 others(3): Show a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 a0002c0000t0009 a0002c0000t0030 a0002c0000t0031	a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 a0002c0000t0009g0000 a0002c0000t0030g0000 a0002c0000t0031g0000	43	440	0.0977	-1190	c.-20 others(9): Show c.-201_*632del	p.Met others(3): Show p.Met1fs	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding	1/1	1190/3670	1/357	1/118			chr6	TogoVar
RASA4_chr7_102574646_102621756	102588790	AAGTAGCT others(3162): Show AAGTAGCTGGGACTACAGGCGCACACCACCACACCCAGCTACTTTTTGTA CTCTCCCTGACCACTCTTAATAGGACAGACCGCTCCCTGCTATACCCCAC TCTCTTCCCTCCCTTGCTCCCTTAGTCCCTTCTGGTTCCCTTCAAGTCAC TATCACAATTTGCTTTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGGTC TCACTCTGTAGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGC AGCCTCCAACTCCTGGGTTCAGGCTATCTTCCTGCCTCAGCCTCCCAAGT AGCTGGAATCACAGGTGCATGCCATCATGGCTGGCTAATTTTCTTTTTGT AGAGATGGGGTCTTGCTACATTGGCCAGGCTGTTCTCAAACTCCTGGCCT CCAGTGATCCTCCCACCTCAGCCTCCCAAAGTACTGGGACTACAGGCATG AGCCGACATTTGAAACATGTATTTATTGGCCCATCTTCTCCCAGGGATAT CAGCTCCATGAGGGCAGGACTCTGCCTCATCTGCCACTGTATCCCCTCAC CTAGAATCATGCCTGGAACCTAGGAGGTGCTCAGTAAGTATTTTTTAAAT AAATGAATGAATGAGTTAATGAAGGAACAGATGAGAAGGTTACTTGAGAA CATGCACCCAGAGCCACACACAGCATAATGTTTGATTATTAGGCATTGAT ACAGACACAGAACCACACAGGTGCCAGCTCAGACTTTCTGTTTTAGAGAA AGGGTCTTGCTCTGTTGCCCTGGCTAGAATGCTGGGATTATCCGTGTGAA CCAGCGTGCCTGGCCCCCATCTCAGTTATCTGGAAATAGTTTCCAACAAA CGGGTGCAACGTGCAAATTTCACATCACGGGGATGCACCTGTCTGTGCAC TGGCCCACACACAGACCTACACATGGATGCCCAGGGAAAGACATGGGCCA TGGCCTCCTGGGGGCTCAGGCCCCTGGACAACACACACACACCTGTCCCT GACACCTCCCAGATTAGACACACCCTGCGGTGCCTGATGTAGCTGGTAGC GGGGCGAGAAGCTCAATCAACTCTTTTCTCATCCAGTCCACTCAGGCCCC TCCCACAGCACCCAGGCCACTCCCACAGAGCTCAGGCCACTCCCATAGCA CCCAGGCCATTCCCACAGCACCCAGGGCATTCCCATAGCATCCAGGGCAC TCCCACAGCACCCAGGCCACTCCCATAGAGCTCAGGCCTCTCCCACAATA CCCAGGCCACTCCCACAGGACTCATGCCACTCCCACAGTACCCAGGCCTC TCCCACAGCACCCAAGCCACTCCCACAGTGTTCAGGCCACTCCCACAGCA CCCGCTCCCCTCCCCGCACCTTGCACTGCAGGTAGGCAGTCTGGGGCCTG CCGGCGTCGTCCGTGTAGATGACCTGCATGACGTGCGAGCCGCCAAAGCT CTTTTCCTCAACCTTTTCCGCTGCCCGGATGTTGGCTAACTTGATGAGGG CGCTTTTCTGGGGCAGGCAGGGAGGAGGAGGCTCAGGGACCTAGCCAGGG GCATTCCATTCCCCATCTCTGGGCCTCAGTCTCCCCTTCTGCAGCACCAG GGGTAGGCATGGGAGACCTAGAGTGACCTCAGCCAGGGCAGAGCACAGAC TGATGGTGACCAAGTGCCCAGCAACTGGGAGAGGAGGACCTGGCCTCTCT GGGGGGCACTCCCAGAAGGCCTCGGAGGTGTGAGCTTTGGGGTAGTGTCG GGACAGCCAGCATTCCCTGGGCTACAAAGTCAATCCGGCCGTGGCCAAGG CTTTGTGACTTTGCATTTATTAATTTTCCAACTTGCTTTTGTAGTCCCAG GCTCTAATAGTCATATCCTGACCGGGCGCAGTGGCTCACACATGTAATCC CAGCATTTTGGGAGGCCGAGGAAGGCGGATCACCTGAGGTTGGGAGTTCG AGACCAGCCTGACAAACATGGAGAAACTCTGTGTCTACTAAAAATACAAA ATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCA AGATCGCACCATTGCACTCTGGCCTGGGCAACAAAAGCGAAACTCCATCT CAAAAAAAAAAAAAAAAATGGGACCAGAATTAAATAATGCCCATGTAGTC AAATCTTTCAACCCTGGCAAGGAAGATGTATAATAATCATCTGAGTGCTT TGGGAGGCTGGGGCAGGAGGATTGCCTGAGGCCAGGAGTTTGAGAACAGC CTGGGCAGCATAGCAAGACCCCATCTCCGCAAAAAAAAAAGTTAAAGAAA ATTAGCTGGGCTTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGTAGGAAGATTGCTTGAGCCCAGGAGTTTGAGGCTGCGGTCAGCTA TGATCGCACCACTGCACTACAGCCTGGGTGACAGAGCAAGACCCTGTCTC AAAAAATAATTATCATCATCTGAGGGGTCTTTGGTCGGAAGGGGCGGGCC CCTCATCTGGTGGGACCCCTGAGCTGGTTGAGAACAGGGTGGGTGATGAG CTCCTTCACCTACTCCTAGCCCGCTCTCACCTGCCCAGGGCTAGGCTGGG TACTCCTGGAAGATCATCCCCATAGCCTGCATGACTGGGGGCAGGTGTAC AGCAAGCAGTCACCAGGTCCATGGAGGAAGTATGTCCTCAGCCCTTCCTG GGAGAAGAGAGCTTGCAGGAGAGGTGACCCATGACTCAGAGAGGGCTGTA CAAGGTGATCTTTGAGATCCCTTCCCACGCCAAGATTCCGTGCTTCTATA TTCCTGCCTCTTCCAGGAAGCCTCCCCTGTTTGCCCTAGCCTCCTACTCA TCTAGCAGCCCAGGTGATATACTATCTTTAATAATATCATTTGCCTAAAT AGTACTACCTGCCAGGCCCTGGGTCAGGACCCTTAGGGAGATCATCTCAT TTAATCCTCAACAACCTGGTAAGGTCGGATCAACTTCCTCCATATTCATT TTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCA GTGGCACGATCTCGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGCGAT TCCCGTGCCTCAGCCTCCCG	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show HG00733.hp2 HG01346.hp1 HG01517.hp1 HG01981.hp2 HG02071.hp1 HG02083.hp2 HG02280.hp2 HG02293.hp1 HG03704.hp2 HG04115.hp1 NA18947.hp2 NA18960.hp2 NA18983.hp2 NA19000.hp1 NA19010.hp2	a0007 a0010 a0023 others(3): Show a0007 a0010 a0023 a0024 a0031 a0036	a0007c0005 a0007c0046 a0010c0009 others(5): Show a0007c0005 a0007c0046 a0010c0009 a0010c0034 a0023c0035 a0024c0024 a0031c0023 a0036c0030	a0007c0005t0006 a0007c0005t0009 a0007c0005t0039 others(8): Show a0007c0005t0006 a0007c0005t0009 a0007c0005t0039 a0007c0046t0009 a0010c0009t0012 a0010c0009t0040 a0010c0034t0012 a0023c0035t0018 a0024c0024t0057 a0031c0023t0006 a0036c0030t0009	a0007c0005t0006g0080 a0007c0005t0006g0103 a0007c0005t0006g0106 others(12): Show a0007c0005t0006g0080 a0007c0005t0006g0103 a0007c0005t0006g0106 a0007c0005t0006g0109 a0007c0005t0009g0108 a0007c0005t0039g0105 a0007c0046t0009g0063 a0010c0009t0012g0112 a0010c0009t0012g0118 a0010c0009t0040g0111 a0010c0034t0012g0117 a0023c0035t0018g0047 a0024c0024t0057g0051 a0031c0023t0006g0110 a0036c0030t0009g0049	15	130	0.1154	-3169	c.183 others(18): Show c.1830+326_1969-1021del		RASA4	ENSG00000105808.19	transcript	ENST00000262940.12	protein_coding	17/21						chr7	TogoVar
RAX2_chr19_3764089_3777228	3772011	C C	CTG CTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02109.hp2 HG02280.hp2 others(9): Show HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0002c0002t0006	a0001c0001t0002g0014 a0001c0001t0006g0034 a0001c0001t0008g0008 others(2): Show a0001c0001t0002g0014 a0001c0001t0006g0034 a0001c0001t0008g0008 a0001c0001t0016g0018 a0002c0002t0006g0033	12	433	0.0277	2	c.-26 others(15): Show c.-268-3_-268-2dupCA		RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding	1/2						chr19	TogoVar
RECQL5_chr17_75621854_75672154	75630838	C C	CTG CTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0012 a0013	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0013 a0004c0009 a0008c0015 a0012c0025 a0013c0022	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0021t0001 a0002c0003t0001 a0002c0013t0001 a0004c0009t0001 a0008c0015t0001 a0012c0025t0001 a0013c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0010g0234 a0001c0002t0001g0199 a0001c0002t0001g0281 a0001c0002t0001g0290 a0001c0002t0003g0258 a0001c0002t0005g0232 a0001c0021t0001g0246 a0002c0003t0001g0147 a0002c0013t0001g0171 a0002c0013t0001g0269 a0004c0009t0001g0131 a0004c0009t0001g0228 a0008c0015t0001g0124 a0008c0015t0001g0125 a0012c0025t0001g0260 a0013c0022t0001g0217	146	375	0.3893	2	c.158 others(15): Show c.1586-3_1586-2dupCA		RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	11/19						chr17	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
RGPD4_chr2_107821892_107897544	107838282	C C	T T	stop_gained stop_gained	HIGH	HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show HG01081.hp2 HG01167.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0006 a0019 a0006 a0019	a0006c0007 a0006c0008 a0006c0076 others(3): Show a0006c0007 a0006c0008 a0006c0076 a0006c0077 a0019c0030 a0019c0031	a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 others(5): Show a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 a0006c0008t0012 a0006c0076t0005 a0006c0077t0030 a0019c0030t0014 a0019c0031t0014	a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 others(17): Show a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 a0006c0007t0005g0196 a0006c0007t0005g0197 a0006c0007t0005g0201 a0006c0007t0018g0199 a0006c0007t0018g0200 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0012g0210 a0006c0076t0005g0192 a0006c0077t0030g0202 a0019c0030t0014g0182 a0019c0031t0014g0082	20	372	0.0538	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	3/23	288/7212	166/5277	56/1758			chr2	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
S100G_chrX_16645158_16659670	16650997	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00733.hp1 HG01069.hp1 HG01070.hp2 others(19): Show HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01884.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0004g0017	22	346	0.0636	0	c.-8- others(4): Show c.-8-2A>G		S100G	ENSG00000169906.5	transcript	ENST00000380200.3	protein_coding	1/2						chrX	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400			chr15	TogoVar
SCART1_chr10_133448945_133474760	133457333	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0007 a0003c0008 others(16): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0003c0041 a0004c0005 a0004c0010 a0004c0015 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(20): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0003c0041t0006 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0015t0001 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0003c0041t0006g0136 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0015t0001g0001 a0004c0015t0001g0034 a0004c0015t0001g0073 a0004c0015t0001g0098 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029	93	432	0.2153	-1	c.444 others(4): Show c.444delC	p.Glu others(5): Show p.Glu149fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	3/12	497/4929	444/3084	148/1027		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0007 others(7): Show a0003 a0004 a0007 a0009 a0017 a0018 a0023 a0026 a0027 a0029	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0007c0016 a0007c0034 a0009c0025 a0009c0047 a0017c0060 a0018c0031 a0023c0050 a0026c0045 a0027c0033 a0029c0032	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0007c0016t0004 a0007c0034t0003 a0009c0025t0003 a0009c0047t0004 a0017c0060t0003 a0018c0031t0003 a0023c0050t0004 a0026c0045t0004 a0027c0033t0004 a0029c0032t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029 a0007c0016t0004g0018 a0007c0016t0004g0050 a0007c0034t0003g0097 a0009c0025t0003g0031 a0009c0025t0003g0123 a0009c0047t0004g0055 a0017c0060t0003g0157 a0018c0031t0003g0122 a0023c0050t0004g0018 a0026c0045t0004g0138 a0027c0033t0004g0053 a0029c0032t0004g0018	102	431	0.2367	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027		INFO_REALIGN_3_PRIME	chr10	TogoVar
SIGLEC11_chr19_49943985_49966172	49960562	TAGAA TAGAA	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0004 a0007 a0012 others(3): Show a0004 a0007 a0012 a0014 a0015 a0020	a0004c0004 a0004c0008 a0004c0015 others(16): Show a0004c0004 a0004c0008 a0004c0015 a0004c0021 a0004c0022 a0004c0030 a0004c0032 a0004c0039 a0007c0009 a0007c0011 a0007c0043 a0007c0044 a0007c0045 a0007c0046 a0012c0025 a0012c0028 a0014c0026 a0015c0023 a0020c0047	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(18): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0008t0001 a0004c0015t0001 a0004c0021t0006 a0004c0022t0001 a0004c0030t0001 a0004c0032t0001 a0004c0039t0001 a0007c0009t0003 a0007c0011t0004 a0007c0043t0004 a0007c0044t0003 a0007c0045t0003 a0007c0046t0004 a0012c0025t0001 a0012c0028t0014 a0014c0026t0001 a0015c0023t0001 a0020c0047t0001	a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0112 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0002g0041 a0004c0004t0005g0111 a0004c0008t0001g0022 a0004c0008t0001g0040 a0004c0008t0001g0042 a0004c0008t0001g0110 a0004c0015t0001g0039 a0004c0015t0001g0107 a0004c0021t0006g0108 a0004c0021t0006g0109 a0004c0022t0001g0116 a0004c0022t0001g0117 a0004c0030t0001g0056 a0004c0032t0001g0070 a0004c0039t0001g0113 a0007c0009t0003g0011 a0007c0009t0003g0144 a0007c0011t0004g0049 a0007c0011t0004g0145 a0007c0011t0004g0146 a0007c0043t0004g0141 a0007c0044t0003g0142 a0007c0045t0003g0143 a0007c0046t0004g0147 a0012c0025t0001g0048 a0012c0028t0014g0054 a0014c0026t0001g0148 a0014c0026t0001g0149 a0015c0023t0001g0043 a0020c0047t0001g0150	65	450	0.1444	-4	c.446 others(11): Show c.446_449delTTCT	p.Phe others(5): Show p.Phe149fs	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding	2/11	540/3173	446/2097	149/698			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 a0003c0006t0001g0145 a0003c0006t0001g0154 a0003c0006t0004g0014 a0003c0007t0002g0009 a0003c0009t0002g0015 a0003c0009t0002g0146 a0003c0011t0002g0044 a0003c0011t0002g0045 a0003c0011t0002g0147 a0003c0011t0002g0153 a0003c0013t0001g0149 a0003c0013t0001g0152 a0003c0013t0003g0150 a0003c0013t0003g0151 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0026t0002g0160 a0003c0026t0002g0161 a0003c0027t0001g0158 a0003c0027t0001g0159 a0003c0048t0001g0139 a0003c0049t0004g0142 a0003c0050t0001g0141 a0003c0051t0003g0148 a0003c0052t0002g0157	53	430	0.1233	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595			chr19	TogoVar
SIGLEC5_chr19_51605960_51635401	51627678	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG02258.hp1 HG02280.hp1 others(9): Show HG01884.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1	a0005 a0005	a0005c0010 a0005c0013 a0005c0036 a0005c0010 a0005c0013 a0005c0036	a0005c0010t0001 a0005c0010t0014 a0005c0013t0001 others(1): Show a0005c0010t0001 a0005c0010t0014 a0005c0013t0001 a0005c0036t0001	a0005c0010t0001g0124 a0005c0010t0001g0154 a0005c0010t0001g0155 others(7): Show a0005c0010t0001g0124 a0005c0010t0001g0154 a0005c0010t0001g0155 a0005c0010t0001g0156 a0005c0010t0001g0158 a0005c0010t0001g0177 a0005c0010t0014g0159 a0005c0013t0001g0014 a0005c0013t0001g0160 a0005c0036t0001g0157	12	412	0.0291	0	c.106 others(4): Show c.1066C>T	p.Arg others(4): Show p.Arg356*	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	6/9	1132/2993	1066/1656	356/551			chr19	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
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0011 a0015 a0016	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0020 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0011c0019 a0015c0016 a0016c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0020t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0011c0019t0001 a0015c0016t0001 a0016c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0068 a0002c0004t0001g0070 a0002c0007t0001g0007 a0002c0007t0001g0069 a0002c0017t0001g0067 a0002c0020t0001g0037 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0057 a0006c0011t0001g0030 a0006c0011t0001g0061 a0006c0023t0001g0062 a0011c0019t0001g0071 a0015c0016t0001g0031 a0016c0024t0001g0072	172	426	0.4038	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446			chr16	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
SLFN13_chr17_35430096_35453766	35445639	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0023 others(6): Show a0002c0002 a0002c0014 a0002c0023 a0002c0024 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(17): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0021 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0057 a0002c0002t0059 a0002c0002t0060 a0002c0014t0002 a0002c0014t0003 a0002c0023t0014 a0002c0024t0001 a0002c0024t0005 a0002c0039t0003 a0002c0040t0003 a0002c0041t0003 a0002c0042t0003 a0002c0043t0003	a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 a0002c0002t0003g0125 a0002c0002t0003g0184 a0002c0002t0003g0204 a0002c0002t0004g0188 a0002c0002t0011g0016 a0002c0002t0021g0037 a0002c0002t0021g0203 a0002c0002t0051g0202 a0002c0002t0052g0192 a0002c0002t0054g0193 a0002c0002t0057g0189 a0002c0002t0059g0194 a0002c0002t0060g0185 a0002c0014t0002g0195 a0002c0014t0003g0028 a0002c0014t0003g0084 a0002c0014t0003g0169 a0002c0023t0014g0059 a0002c0024t0001g0196 a0002c0024t0005g0190 a0002c0039t0003g0187 a0002c0040t0003g0168 a0002c0041t0003g0191 a0002c0042t0003g0197 a0002c0043t0003g0198	59	454	0.1300	0	c.42C others(2): Show c.42C>A	p.Tyr others(3): Show p.Tyr14*	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	3/6	247/8398	42/2694	14/897			chr17	TogoVar
SMUG1_chr12_54175366_54193985	54183934	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp2 HG02451.hp2 HG02486.hp1 others(6): Show HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp2 HG03130.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0019 a0002c0002t0020 a0002c0002t0009 a0002c0002t0019 a0002c0002t0020	a0002c0002t0009g0029 a0002c0002t0009g0066 a0002c0002t0009g0080 others(4): Show a0002c0002t0009g0029 a0002c0002t0009g0066 a0002c0002t0009g0080 a0002c0002t0009g0086 a0002c0002t0009g0095 a0002c0002t0019g0115 a0002c0002t0020g0071	9	436	0.0206	0	c.7C> others(1): Show c.7C>T	p.Gln others(2): Show p.Gln3*	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	3/4	145/2681	7/813	3/270			chr12	TogoVar
SNX31_chr8_100567889_100654665	100596815	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG02055.hp2 HG02109.hp1 others(8): Show HG01243.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 HG02895.hp1 HG03195.hp1 HG03209.hp2 NA18522.hp1 NA18522.hp2	a0009 a0011 a0013 a0009 a0011 a0013	a0009c0009 a0009c0023 a0011c0010 others(1): Show a0009c0009 a0009c0023 a0011c0010 a0013c0012	a0009c0009t0002 a0009c0023t0002 a0011c0010t0007 others(3): Show a0009c0009t0002 a0009c0023t0002 a0011c0010t0007 a0011c0010t0011 a0013c0012t0001 a0013c0012t0002	a0009c0009t0002g0029 a0009c0009t0002g0032 a0009c0009t0002g0033 others(8): Show a0009c0009t0002g0029 a0009c0009t0002g0032 a0009c0009t0002g0033 a0009c0009t0002g0035 a0009c0023t0002g0034 a0011c0010t0007g0196 a0011c0010t0011g0142 a0011c0010t0011g0143 a0013c0012t0001g0201 a0013c0012t0002g0020 a0013c0012t0002g0026	11	302	0.0364	-1	c.801 others(4): Show c.801delG	p.His others(5): Show p.His268fs	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	10/14	952/2450	801/1323	267/440			chr8	TogoVar
SPATC1L_chr21_46156160_46189459	46183518	GGGAGACC others(257): Show GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCC TTGTGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCA GCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGA CCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGA GATCAGCCTGGGGGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02280.hp1 HG02886.hp1 HG03195.hp1 HG02280.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0033 a0001c0001t0018 a0001c0001t0033	a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0033g0198 a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0033g0198	3	246	0.0122	-264	c.-95 others(11): Show c.-958-8_-703del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				703		chr21	TogoVar
SPDYE21_chr7_67271941_67294005	67278874	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG01256.hp2 HG01496.hp2 others(14): Show HG01123.hp2 HG01256.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0012 a0005c0005t0019 a0005c0005t0004 a0005c0005t0012 a0005c0005t0019	a0005c0005t0004g0006 a0005c0005t0004g0057 a0005c0005t0004g0116 others(3): Show a0005c0005t0004g0006 a0005c0005t0004g0057 a0005c0005t0004g0116 a0005c0005t0012g0006 a0005c0005t0012g0117 a0005c0005t0019g0006	17	457	0.0372	0	c.160 others(5): Show c.160+1G>A		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	2/8						chr7	TogoVar
SPSB2_chr12_6865935_6878303	6872998	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01243.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19062.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0003g0003 a0001c0001t0004g0009 a0001c0003t0001g0010 a0002c0002t0001g0008 a0002c0002t0001g0015	77	396	0.1944	0	c.-96 others(5): Show c.-96-1G>A		SPSB2	ENSG00000111671.10	transcript	ENST00000524270.6	protein_coding	1/2						chr12	TogoVar
STAG2_chrX_123956706_124107656	124051099	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01106.hp1 HG01123.hp2 others(17): Show HG00280.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG01952.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp1 HG04184.hp2 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18999.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0114 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0087 a0001c0003t0001g0061	20	265	0.0755	1	c.101 others(7): Show c.1018-3dupT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	11/34					INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124061743	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01123.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18969.hp1 NA18975.hp2 NA18983.hp1 NA19000.hp1 NA19011.hp2 NA19064.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(37): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0183 a0001c0001t0002g0260 a0001c0001t0004g0022 a0001c0001t0004g0032 a0001c0001t0004g0035	40	148	0.2703	3	c.153 others(16): Show c.1535-5_1535-3dupTTT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	16/34					INFO_REALIGN_3_PRIME	chrX	TogoVar
STPG2_chr4_97553872_98148476	97943896	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0106 a0003c0004t0001g0106	1	264	0.0038	0	c.104 others(6): Show c.1044+1G>A		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	8/10						chr4	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
SYNE2_chr14_63848004_64231433	63993818	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0023 a0024 a0026 a0028 a0031 a0032 a0034 a0035 a0040 a0041 a0043 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0055 a0057 a0061 a0062 a0063 a0065 a0069 a0070 a0071 a0073	a0001c0004 a0001c0005 a0001c0009 others(51): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0025 a0001c0054 a0002c0001 a0002c0058 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0004c0003 a0006c0010 a0007c0007 a0011c0017 a0011c0043 a0012c0008 a0015c0016 a0016c0014 a0017c0012 a0019c0031 a0019c0032 a0020c0024 a0020c0048 a0023c0087 a0024c0041 a0024c0042 a0026c0037 a0028c0081 a0031c0038 a0032c0049 a0034c0072 a0035c0036 a0040c0029 a0041c0039 a0043c0050 a0046c0046 a0047c0027 a0049c0026 a0050c0082 a0051c0052 a0052c0040 a0053c0047 a0055c0059 a0057c0066 a0061c0033 a0062c0062 a0063c0061 a0065c0060 a0069c0051 a0070c0045 a0071c0030 a0073c0063	a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 others(59): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0009t0002 a0001c0018t0001 a0001c0025t0002 a0001c0054t0001 a0002c0001t0001 a0002c0001t0003 a0002c0058t0002 a0003c0002t0001 a0003c0002t0006 a0003c0002t0009 a0003c0015t0002 a0003c0034t0001 a0003c0035t0002 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0006c0010t0004 a0007c0007t0001 a0011c0017t0003 a0011c0043t0001 a0012c0008t0003 a0015c0016t0001 a0015c0016t0005 a0016c0014t0001 a0017c0012t0001 a0019c0031t0004 a0019c0032t0001 a0020c0024t0001 a0020c0048t0001 a0023c0087t0002 a0024c0041t0001 a0024c0042t0002 a0026c0037t0001 a0028c0081t0004 a0031c0038t0002 a0032c0049t0002 a0034c0072t0002 a0035c0036t0001 a0040c0029t0003 a0041c0039t0004 a0043c0050t0005 a0046c0046t0001 a0047c0027t0001 a0049c0026t0002 a0050c0082t0001 a0051c0052t0005 a0052c0040t0002 a0053c0047t0003 a0055c0059t0002 a0057c0066t0004 a0061c0033t0002 a0062c0062t0001 a0063c0061t0002 a0065c0060t0007 a0069c0051t0002 a0070c0045t0001 a0071c0030t0003 a0073c0063t0004	a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 a0001c0005t0004g0062 a0001c0009t0002g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0025t0002g0084 a0001c0054t0001g0046 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0003g0033 a0002c0058t0002g0038 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0009g0009 a0003c0015t0002g0011 a0003c0015t0002g0012 a0003c0034t0001g0015 a0003c0035t0002g0070 a0004c0003t0002g0051 a0004c0003t0002g0066 a0004c0003t0003g0052 a0004c0003t0004g0050 a0006c0010t0004g0079 a0006c0010t0004g0080 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 a0011c0017t0003g0025 a0011c0017t0003g0088 a0011c0043t0001g0089 a0012c0008t0003g0007 a0012c0008t0003g0064 a0012c0008t0003g0095 a0015c0016t0001g0150 a0015c0016t0005g0148 a0016c0014t0001g0098 a0016c0014t0001g0099 a0017c0012t0001g0073 a0017c0012t0001g0097 a0019c0031t0004g0102 a0019c0032t0001g0103 a0020c0024t0001g0146 a0020c0048t0001g0043 a0023c0087t0002g0077 a0024c0041t0001g0036 a0024c0042t0002g0069 a0026c0037t0001g0013 a0028c0081t0004g0041 a0031c0038t0002g0028 a0032c0049t0002g0108 a0034c0072t0002g0018 a0035c0036t0001g0001 a0040c0029t0003g0086 a0041c0039t0004g0067 a0043c0050t0005g0042 a0046c0046t0001g0123 a0047c0027t0001g0083 a0049c0026t0002g0074 a0050c0082t0001g0100 a0051c0052t0005g0053 a0052c0040t0002g0149 a0053c0047t0003g0090 a0055c0059t0002g0049 a0057c0066t0004g0076 a0061c0033t0002g0075 a0062c0062t0001g0072 a0063c0061t0002g0034 a0065c0060t0007g0024 a0069c0051t0002g0047 a0070c0045t0001g0124 a0071c0030t0003g0101 a0073c0063t0004g0030	78	143	0.5455	1	c.264 others(7): Show c.2647-3dupT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	21/115					INFO_REALIGN_3_PRIME	chr14	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
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0116 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0266 a0001c0003t0001g0011 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0080 a0001c0003t0001g0099 a0001c0005t0001g0092 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0147 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0034 a0002c0007t0001g0163 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0003c0008t0006g0114 a0003c0008t0006g0115 a0004c0009t0001g0108	273	307	0.8893	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0008c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0008c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0008c0020t0001g0222	89	320	0.2781	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21						chr8	TogoVar
TBC1D3I_chr17_36248639_36269570	36254078	G G	GGTGCACT others(36): Show GGTGCACTGCAGGGCCGGGAATTCCATGCCCACGTTGAGGCTCA	frameshift_variant frameshift_variant	HIGH	HG02280.hp1 HG02809.hp2 HG02896.hp1 others(1): Show HG02280.hp1 HG02809.hp2 HG02896.hp1 HG03209.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0025 a0005c0006t0005g0101 a0005c0006t0005g0102 a0005c0006t0005g0025 a0005c0006t0005g0101 a0005c0006t0005g0102	4	182	0.0220	43	c.152 others(52): Show c.1525_1526insTGAGCCTCAACGTGGGCATGGAATTCCCGGCCCTGC AGTGCAC	p.Pro others(5): Show p.Pro509fs	TBC1D3I	ENSG00000274933.6	transcript	ENST00000621034.2	protein_coding	14/14	1682/2122	1525/1650	509/549			chr17	TogoVar
TDRD12_chr19_32714767_32834580	32826678	AAC AAC	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0006 a0009 a0019 a0021 a0023 a0026	a0002c0003 a0002c0010 a0003c0002 others(7): Show a0002c0003 a0002c0010 a0003c0002 a0005c0005 a0006c0006 a0009c0009 a0019c0022 a0021c0024 a0023c0020 a0026c0030	a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 others(20): Show a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0040 a0002c0003t0041 a0002c0010t0001 a0002c0010t0039 a0003c0002t0002 a0005c0005t0006 a0005c0005t0014 a0005c0005t0027 a0006c0006t0006 a0006c0006t0014 a0006c0006t0028 a0009c0009t0001 a0019c0022t0001 a0021c0024t0001 a0023c0020t0001 a0026c0030t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 others(110): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0217 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0252 a0002c0003t0001g0254 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0273 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0376 a0002c0003t0011g0010 a0002c0003t0011g0104 a0002c0003t0011g0190 a0002c0003t0011g0198 a0002c0003t0011g0241 a0002c0003t0011g0274 a0002c0003t0033g0203 a0002c0003t0034g0210 a0002c0003t0035g0242 a0002c0003t0036g0202 a0002c0003t0037g0207 a0002c0003t0040g0227 a0002c0003t0041g0236 a0002c0010t0001g0218 a0002c0010t0001g0251 a0002c0010t0001g0255 a0002c0010t0039g0256 a0003c0002t0002g0083 a0005c0005t0006g0111 a0005c0005t0006g0112 a0005c0005t0006g0114 a0005c0005t0006g0116 a0005c0005t0006g0117 a0005c0005t0006g0120 a0005c0005t0006g0121 a0005c0005t0006g0292 a0005c0005t0014g0115 a0005c0005t0014g0262 a0005c0005t0027g0122 a0006c0006t0006g0113 a0006c0006t0006g0119 a0006c0006t0006g0238 a0006c0006t0006g0246 a0006c0006t0014g0118 a0006c0006t0014g0259 a0006c0006t0028g0261 a0009c0009t0001g0224 a0009c0009t0001g0225 a0009c0009t0001g0226 a0009c0009t0001g0275 a0019c0022t0001g0247 a0021c0024t0001g0253 a0023c0020t0001g0264 a0026c0030t0001g0216	115	378	0.3042	-2	c.382 others(15): Show c.3823-3_3823-2delCA		TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	31/32					INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX13B_chrX_107975864_107987370	107981668	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp2 HG02897.hp2 HG02280.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	311	0.0064	0	c.459 others(5): Show c.459+1G>A		TEX13B	ENSG00000170925.3	transcript	ENST00000302917.1	protein_coding	2/2						chrX	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
TMEM269_chr1_42779991_42805827	42789896	G G	A A	start_lost start_lost	HIGH	HG00639.hp1 HG02280.hp2 HG03225.hp1 HG00639.hp1 HG02280.hp2 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0023 a0003c0004t0043 a0003c0004t0023 a0003c0004t0043	a0003c0004t0023g0121 a0003c0004t0023g0123 a0003c0004t0043g0122 a0003c0004t0023g0121 a0003c0004t0023g0123 a0003c0004t0043g0122	3	408	0.0074	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMEM269	ENSG00000274386.6	transcript	ENST00000637012.2	protein_coding	2/6	193/3404	3/612	1/203			chr1	TogoVar
TNFAIP8_chr5_119351019_119404688	119392800	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show HG00280.hp1 HG00741.hp2 HG01496.hp2 HG01934.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18947.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 others(22): Show a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0096 a0001c0002t0097	a0001c0002t0007g0211 a0001c0002t0007g0215 a0001c0002t0007g0220 others(37): Show a0001c0002t0007g0211 a0001c0002t0007g0215 a0001c0002t0007g0220 a0001c0002t0007g0223 a0001c0002t0007g0250 a0001c0002t0015g0018 a0001c0002t0015g0050 a0001c0002t0015g0051 a0001c0002t0018g0233 a0001c0002t0018g0234 a0001c0002t0018g0294 a0001c0002t0019g0038 a0001c0002t0019g0238 a0001c0002t0020g0015 a0001c0002t0020g0222 a0001c0002t0020g0224 a0001c0002t0033g0212 a0001c0002t0033g0235 a0001c0002t0034g0017 a0001c0002t0034g0046 a0001c0002t0035g0037 a0001c0002t0035g0227 a0001c0002t0036g0015 a0001c0002t0036g0241 a0001c0002t0052g0237 a0001c0002t0053g0225 a0001c0002t0054g0045 a0001c0002t0055g0236 a0001c0002t0056g0017 a0001c0002t0057g0242 a0001c0002t0058g0037 a0001c0002t0059g0221 a0001c0002t0060g0226 a0001c0002t0061g0257 a0001c0002t0062g0228 a0001c0002t0063g0240 a0001c0002t0064g0239 a0001c0002t0065g0015 a0001c0002t0096g0144 a0001c0002t0097g0071	42	381	0.1102	1	c.32- others(5): Show c.32-3dupT		TNFAIP8	ENSG00000145779.8	transcript	ENST00000504771.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
TNRC18_chr7_5301811_5428834	5361627	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00673.hp2 HG01258.hp2 others(22): Show HG00597.hp2 HG00673.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18964.hp1 NA19009.hp2	a0004 a0005 a0008 others(5): Show a0004 a0005 a0008 a0044 a0050 a0058 a0061 a0091	a0004c0045 a0005c0018 a0005c0024 others(20): Show a0004c0045 a0005c0018 a0005c0024 a0005c0065 a0005c0150 a0005c0151 a0005c0152 a0005c0153 a0005c0211 a0005c0228 a0008c0085 a0008c0086 a0008c0087 a0008c0122 a0008c0123 a0008c0179 a0008c0186 a0008c0193 a0044c0221 a0050c0198 a0058c0141 a0061c0144 a0091c0137	a0004c0045t0008 a0005c0018t0003 a0005c0018t0005 others(21): Show a0004c0045t0008 a0005c0018t0003 a0005c0018t0005 a0005c0024t0002 a0005c0065t0001 a0005c0150t0009 a0005c0151t0002 a0005c0152t0005 a0005c0153t0001 a0005c0211t0002 a0005c0228t0002 a0008c0085t0002 a0008c0086t0004 a0008c0087t0001 a0008c0122t0006 a0008c0123t0026 a0008c0179t0020 a0008c0186t0003 a0008c0193t0005 a0044c0221t0003 a0050c0198t0004 a0058c0141t0006 a0061c0144t0019 a0091c0137t0001	a0004c0045t0008g0050 a0005c0018t0003g0246 a0005c0018t0005g0031 others(22): Show a0004c0045t0008g0050 a0005c0018t0003g0246 a0005c0018t0005g0031 a0005c0024t0002g0183 a0005c0024t0002g0209 a0005c0065t0001g0277 a0005c0150t0009g0265 a0005c0151t0002g0222 a0005c0152t0005g0203 a0005c0153t0001g0080 a0005c0211t0002g0167 a0005c0228t0002g0055 a0008c0085t0002g0051 a0008c0086t0004g0012 a0008c0087t0001g0120 a0008c0122t0006g0129 a0008c0123t0026g0157 a0008c0179t0020g0032 a0008c0186t0003g0124 a0008c0193t0005g0217 a0044c0221t0003g0196 a0050c0198t0004g0044 a0058c0141t0006g0121 a0061c0144t0019g0258 a0091c0137t0001g0125	25	304	0.0822	1	c.462 others(5): Show c.4627dupC	p.Arg others(6): Show p.Arg1543fs	TNRC18	ENSG00000182095.15	transcript	ENST00000430969.6	protein_coding	14/30	5264/10839	4627/8907	1543/2968			chr7	TogoVar
TPSD1_chr16_1251069_1264008	1256558	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0012 a0002c0018 others(3): Show a0002c0002 a0002c0012 a0002c0018 a0002c0019 a0004c0004 a0004c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(23): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0018 a0002c0002t0042 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0092 a0002c0012t0002 a0002c0012t0028 a0002c0018t0088 a0002c0019t0078 a0004c0004t0002 a0004c0004t0006 a0004c0004t0077 a0004c0004t0079 a0004c0004t0090 a0004c0007t0087 a0004c0007t0089 a0004c0007t0091 a0004c0007t0093	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0008g0005 a0002c0002t0008g0016 a0002c0002t0016g0005 a0002c0002t0018g0002 a0002c0002t0042g0013 a0002c0002t0080g0015 a0002c0002t0081g0002 a0002c0002t0082g0005 a0002c0002t0083g0002 a0002c0002t0084g0002 a0002c0002t0085g0002 a0002c0002t0086g0002 a0002c0002t0092g0002 a0002c0012t0002g0002 a0002c0012t0028g0002 a0002c0018t0088g0002 a0002c0019t0078g0002 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0006g0012 a0004c0004t0077g0012 a0004c0004t0079g0002 a0004c0004t0090g0002 a0004c0007t0087g0008 a0004c0007t0089g0008 a0004c0007t0091g0008 a0004c0007t0093g0008	72	268	0.2687	-1	c.127 others(4): Show c.127delG	p.Glu others(4): Show p.Glu43fs	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	2/5	339/1573	127/729	43/242		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM17_chr1_228402935_228421861	228415115	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00673.hp2 HG01109.hp2 HG01261.hp2 others(14): Show HG00673.hp2 HG01109.hp2 HG01261.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0004 a0001c0001t0001 a0001c0002t0001 a0001c0006t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0006t0004g0015	17	410	0.0415	0	c.-41 others(5): Show c.-41-2A>G		TRIM17	ENSG00000162931.12	transcript	ENST00000366698.7	protein_coding	1/6						chr1	TogoVar
TRIM48_chr11_55257155_55276114	55269336	T T	C C	stop_lost stop_lost	HIGH	HG01346.hp2 HG01433.hp1 HG02109.hp1 others(8): Show HG01346.hp2 HG01433.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG06807.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0007g0008 a0001c0001t0008g0013	11	270	0.0407	0	c.673 others(3): Show c.673T>C	p.Ter others(11): Show p.Ter225Argext*?	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding	5/6	786/1467	673/675	225/224			chr11	TogoVar
TRIM49B_chr11_49023823_49043155	49031600	A A	G G	start_lost start_lost	HIGH	HG02280.hp2 HG02723.hp2 HG03209.hp1 HG02280.hp2 HG02723.hp2 HG03209.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0004 a0006c0007t0001g0002 a0006c0007t0001g0004	3	428	0.0070	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TRIM49B	ENSG00000182053.13	transcript	ENST00000332682.9	protein_coding	2/7	158/1694	1/1359	1/452			chr11	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0010c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0010c0012t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0056 a0001c0006t0003g0032 a0001c0006t0003g0046 a0001c0006t0003g0096 a0001c0006t0003g0097 a0001c0011t0001g0119 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0005c0007t0001g0108 a0005c0007t0001g0109 a0005c0007t0001g0113 a0006c0008t0001g0118 a0006c0008t0001g0124 a0007c0009t0001g0123 a0008c0017t0001g0125 a0010c0012t0001g0132 a0013c0013t0001g0129	273	422	0.6469	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6						chr11	TogoVar

Search by Variant

Search

Search Results