Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRODH_chr22_18907781_18941293	18925164	C C	T T	stop_gained stop_gained	HIGH	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(16): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG02132.hp1 HG02145.hp2 HG02559.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 NA18955.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19083.hp1 NA20752.hp2	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0016 a0039 a0046	a0001c0018 a0001c0029 a0004c0085 others(5): Show a0001c0018 a0001c0029 a0004c0085 a0008c0010 a0008c0039 a0016c0086 a0039c0087 a0046c0084	a0001c0018t0001 a0001c0029t0001 a0004c0085t0001 others(5): Show a0001c0018t0001 a0001c0029t0001 a0004c0085t0001 a0008c0010t0001 a0008c0039t0001 a0016c0086t0002 a0039c0087t0001 a0046c0084t0002	a0001c0018t0001g0166 a0001c0018t0001g0172 a0001c0018t0001g0173 others(10): Show a0001c0018t0001g0166 a0001c0018t0001g0172 a0001c0018t0001g0173 a0001c0018t0001g0186 a0001c0029t0001g0114 a0001c0029t0001g0196 a0004c0085t0001g0267 a0008c0010t0001g0008 a0008c0010t0001g0197 a0008c0039t0001g0041 a0016c0086t0002g0261 a0039c0087t0001g0258 a0046c0084t0002g0200	19	408	0.0466	0	c.554 others(3): Show c.554G>A	p.Trp others(4): Show p.Trp185*	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding	4/14	560/2203	554/1803	185/600			chr22	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00639.hp2 HG00733.hp1 others(49): Show HG00438.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0333	52	357	0.1457	3	c.-48 others(14): Show c.-48-5_-48-3dupTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS48_chr4_151272161_151296862	151279866	G G	GCAGGT GCAGGT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131	89	426	0.2089	5	c.127 others(12): Show c.127_131dupGTCAG	p.Ser others(4): Show p.Ser44fs	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	2/5	144/1408	132/987	44/328		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002 a0006c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0005t0001g0124 a0001c0005t0001g0125 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0005g0001 a0002c0002t0005g0062 a0002c0002t0006g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0004c0004t0004g0009 a0004c0004t0004g0022 a0004c0004t0004g0039 a0004c0004t0004g0081 a0004c0004t0004g0082 a0005c0006t0002g0059 a0006c0007t0004g0132	324	426	0.7606	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328			chr4	TogoVar
PSG4_chr19_43187702_43210638	43204252	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0015 a0020 a0002 a0015 a0020	a0002c0002 a0002c0037 a0015c0020 others(1): Show a0002c0002 a0002c0037 a0015c0020 a0020c0038	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0002c0037t0003 a0015c0020t0003 a0020c0038t0006	a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 others(22): Show a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0167 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0006g0168 a0002c0002t0006g0170 a0002c0002t0006g0172 a0002c0002t0017g0175 a0002c0002t0018g0169 a0002c0037t0003g0166 a0015c0020t0003g0041 a0020c0038t0006g0181	42	298	0.1409	0	c.65- others(4): Show c.65-1G>A		PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419			chr19	TogoVar
PSG8_chr19_42749233_42770678	42763988	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show HG00280.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01993.hp2 HG02040.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA19240.hp2 NA20752.hp2	a0003 a0009 a0011 others(3): Show a0003 a0009 a0011 a0018 a0019 a0027	a0003c0003 a0003c0005 a0003c0013 others(6): Show a0003c0003 a0003c0005 a0003c0013 a0003c0031 a0009c0014 a0011c0035 a0018c0034 a0019c0032 a0027c0029	a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 others(6): Show a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 a0003c0031t0001 a0009c0014t0001 a0011c0035t0001 a0018c0034t0001 a0019c0032t0001 a0027c0029t0001	a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0201 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0005t0001g0149 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0013t0001g0153 a0003c0013t0001g0156 a0003c0031t0001g0202 a0009c0014t0001g0045 a0011c0035t0001g0205 a0018c0034t0001g0155 a0019c0032t0001g0154 a0027c0029t0001g0204	36	436	0.0826	-1	c.357 others(4): Show c.357delC	p.Tyr others(5): Show p.Tyr120fs	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding	2/5	454/1440	357/1281	119/426			chr19	TogoVar
PSORS1C2_chr6_31132534_31144066	31138080	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01192.hp2 others(8): Show HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01981.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG04184.hp1 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0011 a0004c0004t0002 a0004c0004t0011	a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 others(2): Show a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 a0004c0004t0002g0082 a0004c0004t0011g0081	11	460	0.0239	-1	c.281 others(4): Show c.281delC	p.Pro others(4): Show p.Pro94fs	PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding	2/2	321/868	281/411	94/136			chr6	TogoVar
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
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
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
RIMBP3B_chr22_21378751_21394478	21385815	T T	TCC TCC	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01071.hp1 HG01168.hp1 others(9): Show HG00639.hp2 HG01071.hp1 HG01168.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG02683.hp2 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp1 NA18954.hp2	a0003 a0012 a0016 others(1): Show a0003 a0012 a0016 a0034	a0003c0053 a0003c0054 a0003c0055 others(9): Show a0003c0053 a0003c0054 a0003c0055 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0012c0075 a0016c0026 a0034c0087	a0003c0053t0004 a0003c0054t0004 a0003c0055t0001 others(9): Show a0003c0053t0004 a0003c0054t0004 a0003c0055t0001 a0003c0056t0004 a0003c0057t0004 a0003c0058t0004 a0003c0059t0001 a0003c0060t0004 a0003c0061t0001 a0012c0075t0004 a0016c0026t0001 a0034c0087t0004	a0003c0053t0004g0000 a0003c0054t0004g0000 a0003c0055t0001g0000 others(9): Show a0003c0053t0004g0000 a0003c0054t0004g0000 a0003c0055t0001g0000 a0003c0056t0004g0000 a0003c0057t0004g0000 a0003c0058t0004g0000 a0003c0059t0001g0000 a0003c0060t0004g0000 a0003c0061t0001g0000 a0012c0075t0004g0000 a0016c0026t0001g0000 a0034c0087t0004g0000	12	118	0.1017	2	c.195 others(11): Show c.1958_1959dupCC	p.Gly others(5): Show p.Gly654fs	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding	1/1	2068/5728	1960/4920	654/1639		INFO_REALIGN_3_PRIME	chr22	TogoVar
RPEL1_chr10_103240887_103253016	103246174	C C	T T	stop_gained stop_gained	HIGH	HG00741.hp2 HG01071.hp1 HG01081.hp1 others(1): Show HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	4	374	0.0107	0	c.178 others(3): Show c.178C>T	p.Gln others(3): Show p.Gln60*	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding	1/1	288/2130	178/687	60/228			chr10	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
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392			chr18	TogoVar
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
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
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
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0040 a0006c0008 a0006c0021 a0006c0044 a0006c0045 a0006c0046 a0006c0047 a0007c0007 a0008c0015 a0008c0022 a0008c0049 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0040t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0044t0003 a0006c0045t0004 a0006c0046t0004 a0006c0047t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0049t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0317 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0005t0001g0140 a0001c0005t0002g0005 a0001c0005t0002g0031 a0001c0005t0002g0048 a0001c0005t0002g0097 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0287 a0001c0005t0002g0324 a0001c0005t0002g0326 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0009t0001g0129 a0001c0009t0002g0011 a0001c0009t0002g0053 a0001c0009t0002g0131 a0001c0009t0002g0133 a0001c0009t0002g0137 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0016t0001g0002 a0001c0016t0001g0073 a0001c0016t0001g0323 a0001c0016t0001g0336 a0001c0029t0002g0253 a0001c0040t0004g0270 a0006c0008t0003g0038 a0006c0008t0003g0165 a0006c0008t0003g0192 a0006c0008t0003g0193 a0006c0008t0003g0204 a0006c0008t0003g0220 a0006c0008t0004g0176 a0006c0008t0004g0178 a0006c0008t0004g0202 a0006c0008t0004g0207 a0006c0021t0004g0034 a0006c0021t0004g0170 a0006c0044t0003g0012 a0006c0045t0004g0172 a0006c0046t0004g0212 a0006c0047t0004g0201 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0015t0004g0222 a0008c0015t0004g0228 a0008c0015t0004g0229 a0008c0015t0004g0230 a0008c0015t0004g0232 a0008c0022t0003g0231 a0008c0022t0003g0234 a0008c0022t0004g0236 a0008c0049t0004g0239 a0010c0012t0003g0039 a0010c0012t0003g0214 a0010c0012t0003g0215 a0010c0012t0003g0216 a0010c0012t0004g0213 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203 a0015c0024t0002g0018	181	453	0.3996	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628			chr5	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 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 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0132 a0001c0001t0005g0028 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0006g0006 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0003 a0001c0001t0007g0067 a0001c0001t0010g0151 a0001c0001t0011g0024 a0001c0001t0011g0120 a0001c0001t0013g0064 a0001c0001t0013g0069 a0001c0001t0013g0075 a0001c0001t0014g0068 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0015g0022 a0001c0001t0015g0076 a0001c0001t0016g0077 a0001c0001t0016g0078 a0001c0001t0017g0070 a0001c0001t0017g0072 a0001c0001t0018g0015 a0001c0001t0020g0117 a0001c0001t0026g0005 a0001c0001t0027g0115 a0001c0001t0028g0063 a0001c0001t0029g0062 a0001c0001t0030g0003 a0001c0001t0031g0107 a0001c0001t0032g0071	140	282	0.4965	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMCO2_chr12_27441736_27507185	27495209	GTTTTCTC others(7014): Show GTTTTCTCTTTAGTGTGTATCTTAACATGTAATATAGAATGTATGTATGT GTTTAGCTGTTTATCACTTGCCCCCAGCCCCTGTAATAGATTGTATTCTT TGTCTATTTTGTTAACACTGTATCCTAGAACCTGTTAGCAGTAATCACCC AATAAATATGCTTTGCATAGATGAACGAGTTGAGTAGAGGAATTTAGTAC AAGGACATCTTCCTACATTAATAATCTAGTGGTTAAAGATTAGCATGTGG GTTTCATTTAGTTTTCTACCGTAGTGCTACCTTACACTGTGAATGTGTAT GTCTGCTTCTATTCAAGATGCACCTGCCAATGATCTGTTCATGGGACCTA TGTGTGATTTCTAATGTGGGCCCCCAAGGTGATCCAGAGGAAAAGCACTC AGCATTATCTATAGTAAGACTTGGAGACATTTAGAATTTTTTTAAGGTAC TTGATTACTCTTTTTTTTCAGGACCTTTGCAAGAATGTGGAACTGCTGAG TGCAAAGCTAAGGATGTATCAAATGGAGGCAGAGGACACTGACTCTCACA GTTCTGAGGAAATAGATACGGAAGAGATGGAGGCCCTGCTTCCTCAGGCC CCAGCATCCTTTTTAGTGCAGAAGTCTCCTCCCCGCAATACAGCATGGTA AGTCAGAGCAAGAGGCCATTCAGGGCTGGATGACTGCCCCAAAATGTATG GATTATGCTGGGATTGATTTTTTTCAAGTGTTGACTAAAATGTTTTGTTT TATTTTCGTTTGTAAATTATCTATGTTCTTTAAAAGTCATTGGAGTTCAT TGGAGTCATGGGATTTTTCTTATTTAGATAAAGATCTATTGCATTCGATA TATATAGATTGCTTTCTTACTGCTTCAGATAAATCTAAAGATTTATCTTT AGATAAATATATCTAAATATAGATAGATATATCTTCATGATCAAAGATAT ATGACCAAAGACCTCTTGTGGGTGGCTATTAATGTTAATTATATTTTTAG TTAGTCTGTTCCTTTTTGCCTGAAAACTCTTCCAAACAACATTAAGTCAA CACTTTAATTTTAAATTTTCTTCCATGATGGCTGCAAATACAGAGAAGCT TCTCTATACATTTCTATAGATATATAAAGATTTGTCTATGTATAGAGAGA TATAGATTTATTTCTATCTACATATCTATAGATGTATCTATAAAATCTAT CTATATCTATCTAAAATCTTAAAAGATGGTATCTATACATGATGAGGCAA CCACCTCCACTCTTATCAGTTATGTTCTTTTCATAAGAAATTTGAAAAGT TTTGTTTGCTGTGCAGGATGCCTTACCCTTGGATGGTATTGGAAACACAC TACCAGCAAATTCTGGCTCTTTGGATCCTGTCCAGGAGATGCCACACCAT CATTTACACCCTGAGAAGTAATTTCCTCTAAGAAAACATTTTTGATTCTT TATCTCCAACCACCAACCCAGGTAGAATCTCAGCTCTGTCTTCAATCAAG TCCTTTGCCCATTTTAAAGAATTGGGTTGTTCTTTTATTTTTTGCTGTTG AGTTGTAAAAGTTTATGTGCACACCTTGCACATAATCCTGTCGGACAGCC CATGGCATGTTATTGAAATTAAATTGTTTCACATCTGTCTTCTCCTAATA CTCCAAGGGATACACAAAAGCATGAATCTTATCTTCGTAATTTGGGGACT TGACGTATACAAGATGCTCATAATGCTCAAACAGATGTGTGCAGGCCACC TCATGTTGACCATCATAGGAGAGAGCATGTGCTGCCTCTTTGAATTTGCA GGATACGAGGTGCTTAGGTTAAACCATGTAGGAGATTGGGGGACCCAGTT TGACATGCATATTCCTCACCTGCAAGATAAATTTCCAGCTTGTCTAACAG TTTCACCTCCTATTGGAAATCTTCAGGCCTTTTGTAAGGAATCTAAGAGG TTTGATACTGAGGAGGAATTTAAGAAATGAGCATATCAGTGTCACATTCT GTTCCAGAGTAAAAATCCAGATATTATAAAAACTTGAAAGTTTATCTGTG ATATCTCCTGCCAATAGTTTAGTAAAATCTATGATGCTCTGGACATCTCT TTAATAGATAAAGAATAATTCTTCTGTCAAGATAGGATGAATGATGTAAA GGAATTTGATGATAGATGATTTGTGCAAGTGGATGATGGCAGAAAGTTTG TGTTGGTCCCAGGATGTTCCATACCATTAACCATGGTAAAATCAGATGGA GGCTGGGTGTGGTAGCTCATGCCTATAATCCAAGCACTTCGGGAGCCTGA GGCAGGTGGATCACTTGAGCCCCAGGAGTTTGAGACCAGCCTGGGCAACA AGGTGAAAACTTGTATCTACAAAAAAAAAAATTCAGTGACACATGCCTGT AGTTTTACCTACTGGGGAGGCTGAGGTGGGACTATCACCTGAGCCCAGGG AAGTCGAGGTTGTGGTGAGCCTGGAGATCGTGTCACTGCACTCCAGTTTG GGTAACAGAGTGAGACCTGGTCTCAAAAAAAAAAAAAAAAAATCAGATGG AGGTTATAACTATGATGCATCTGATCTGGCTGCTCTTAAGCAAAAACTAT TTGAGGAGAAAGAAGATATGGTTATCTCTGGGTGAACAGTGGACAATCTC TGCACTTCCAAAAAATATTTGCTGCTGCTCAAAAGATTGGTTGGTATGAT CCTAAAGTAACTAGAGTCTCCCGTGCTGGATTTGGTGTGTTGCTAGGGGA AGACAAGAAGTTTAATATATGTTCAGATGAAACAGTTCATCTCGTAGACC TGGAATAAGGACTAAAGTGATCCATGGACAAATTGAAGGAAAAAGAAAGA AGCAAGGTCTTAACTGCAGAGGAATTGAGTGCTGCTTAGACATCTGTTGC TTATGGCTGTATCAAATAAACTGAACTTTCCCATAACCGGTTGAGTGACA ACATCTTCTCGTTTGACAAAATGCTAGATGACAGAGGAAATACAGCTGCT TACTTTTTGTGTGGTTTCACTAGAACCAGGTCTATTGCACATCTGGCCAG TATCAATGATCAGATGCTCCAAAAAGCTGCTTGACAGACCAAGATTATTT TGCACCATGAGAAAGAATGGAAACTAGGCCATGGCATTTTATGGCTCCCT GAGATACAACAAAAGATTTTAGATGACTTACTTCTGGTTCTTGTGGTTCT ATATATGAGCTGGCAGCTACTTTCACAGAGTTCTATGATAGCTGCTATTG TGTGGAGAAAGATCGACAAGAGTGGAGAGATATTGAAGGTGAACATGTGG TGTACGCTGCTGCGTGAAGCAGTAGATGCTGTCCTGGCTGAGGAGTTCAA TATCCCGGGAATAAAACCTGTCCAAAGGATGTAATCCTGCTTAGGTTTGA ACACTGTATGTTTTTACCACACTGGTCACTAGCATTGTTTGCTTTTTTTT TAAATAACCATTATATTAACACAAGAACGTTTGTCAACTGTGAAAAAAAA ATAACTCTTACAACTCAACAACAAAAAGATAAACAACCCAGTTTGAAAAA CAGGCAAATGACTTGGATACACATTTCTTCAAAGAAGACACACAAACGGT CAACAAGCACATGAAAAGATGTTCAGCATCATTGGTCATTAAAAAAAACG TAAATCAAACCCACAATGAACCACAGTGGGATACCACTTAACATCCACTA AGATGACTACAGTAAAAAAGACAGACAATAACTAGCATTGGAGAGGATGT GGAGAAATTGGAACCCTCGTATATCACTGGTGGGATTGCGAAATGGTACA ACCACTTTTGAAAACAACTTGGCAGTTTCTAAAACGGTTAAATATAGAAT TACCACATGATTCCACAAGTCTACTCTTGGGTATATACTCAAAAGAATTG AAAATGTCCACACAAAAACCTGTACACAAATGTTCATGGCAGCATTATTC ATAATAGCCAAAAAGTAGAAACAATCCAAATGTCCGTTAACTGATGAATG GAAAAACAAAATGCAGTGTAGCCACACAATGAACTATTATTCAGCTGCAA AAAAGAATGATGTACTGATACATACCACAACATGATCTTAGAAAACATTG TGCTCAGTGAAAGACAGCCAGACACAGAGGGATATCCAAATGATTCCATC TATATGAATGTTCAAAGTAGGAAAATCCATATAGATTCAAAGTAGATTCA TGGTTTCCAGGCACAGAGTGTTGGGGAATAGGGAGATGGTGACTGCTCCA GGGAATGGGGTTTCTTTTTGGGGTGACAAAAATTTCCTGGAATTAGATAG TGGTGATGGTTGTACAGCCTTGTGACTAAACCAAAAGCCTCTGGATTGTA CAATGTATAGAGTGAATTTTATAGTATGTGACTAATAACTCCAAACCAAC CAACCAGACAAATAAGTAAATAGGTGAATGCCTTTCACGTATCGCTTTAT TGTGTTATATCGGAGGATTATAATCAGGCTGAGTTGCTCATCTTTTTCTC ACATGATTACATTCTAATTAAGATTGCCTGAAATTTTGCCCATCTCTTGT TAAAGAACTGGAGATATATTGGTTTAACTACAGCATATTTATACACTAAC ATCTTGAGGAAGTTTGCCTTATGGATTAATTCAATCATTATGAATCGATT TTTGCTGGTTTTAGCTTCACAAGGTGGCCTTTTATTGATAATGTCCCCTA GTCCTTCCATTCCCTTTATGGTCATCCCCTATGTACTGACCATAAATAAT GTGGAGATATTGGAAAAGATCAAAGGTTTTACACGTGGCAAGGTTTGAAA ATTAAATAAATAGTATTCAAAAGTTAAAAGAATATTTTATTATTTACCAA AGATGTCTAAAATGAATAAAATTATTAGTGACACATTTTTTTGGTTCTGT ACAGGTGATATGAGAAAACTTATTTCAATTTAGTTAACTATTTTTTTTTC CCAAAGAAAAATGTCTAGACCTTTTAAAATGAATATCATGCTTAGTAATA GAAAATTTAAATTTTTAAAACTTGTATTGACTTGTAAATAAAAATCAAAT GATTCATTACTGTCAAGAAATAAATATGAATTTAACTGTACCAAGAGTAT TTACCGTAGGACAGAAAAAACTAGATGAGTATACTCTAAATGTAGGGAAA AAATTAAACTAAAAACTAAGACAAAATAAAAAGAATGAATGAATAAATGG AAGAAAGGAAAAAAGATAAAAAATGTGTCTGGTTATATTTGGGTGATGAG ATTATAGTTTCCTCATTTCTCTGTTTTCCAAATTATCTTTGCTTTAGAAA ATTTGTTTTACTTTCCAAAAACTTAATGTTAAAATGTGTTTCTTTGAAAA TGTCATAGTTTAGTATTTCCAAAGATGACTGGTTTTTTAATTTAGGAGGA ACAGTGTTTATTTACTAGATAGTTTTCGTAGTGAGTTGTTTTTCTTTTCA TAAGAAAGAACAAATCTGCCTTTGGTGCTCCTTGAAGGCAGGACACATCT GCTTCCTGTTATCAGCTCTCTAAGCCCCTTCCTAATAGAGTATCTTAAGA ACATTGGCTCTTTAATAAATGTGTGAAGTGAAAGCAATTATGTGTGTAAC TGCCAAGTGATAGCCAGTGGGGATAATGGCGAGAAACTTGGCTCTGGTTT ATAAAACCACTGAGTTAGGTCACAAAATCGATCCATGGCTAGCTTTAACT ATGCTCTAGATTTTCTCTTCTGATGTATTATAGATGGTAATTATCTCAGG TAATTGGATGATCTATGACATTTCTTCTTTGTGTTCTTCTGGATTTTCTG CCCTAATCATATAATACATTTATAACTAGAAAATAATAATGCAAGGACTT AGAATCATATCAATAAAATATGTCATAGGTGCAACCCAGAAGGATGGGTC CTCAAGGATTTAAAAAAGCTTCTATTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGACATGAACCCAAGAGGCAGAGCTTGCAG TGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAACAAACAAAACAAAACAA AAAAAGCTTCTATTATTTTACAAATAAAAGTCTGGTGCCAGGACAAAAAC TAGGGGCAAAGAGCTCTGAATTCCCTTTATCACGTTATACTTTGTGTCCT GGGGAAAATCTAACTGCCTGTGCCTTTGTTTGCTCAAAAAGAGACATCAT ATACATCATGAGTGAGGTAAAGATTGCAATAACCTGCTAGGATGTGAGAA GGACATTTCAAAGGAAAGAACCCCACACTATCCAGGGATTTTATTGTTTC ATGGCTATAGGATCTTGAAATTCCAATGCCAGACCTAGCATGAACATAAA TAAGTGCTCCTCCATTCCAAGCTGCTGCTTTTACAAATGTAAACTGAAGT CAAGAGAAAATTACTTAGTTGAAGTTTTAGAGCTACCTGGGTGGAGGTGC CAGGAGCCTATCAATGTGATTATTTTCAGAATTTGGTTAACACAGATGTT TTCTCTCTTTGTAGGAAACGTGCACTGAGGATTTTCATCATGTTTGATGT CCTCACCGTCACTGGACTTTTATGTTACATACTATTTTTTGGTGCTACAT TTCTCTTTGAAAGGGTGCTTCTGAGAATGCTTGGGTGCCGCACCACATGG GACCTACGGGAGATGAGAGAGCCTTTCTTGAATTTGGAAGTGGAAGCCTT GTTACCCTCCTAAAGATACAGAAGTTACTGTCACCCTACTGACTTTCTCA CCAGTAAACATTGTGGCTGTTCCTGTATTGTGGTGGCTAACTTATTTTTC AAAAAATAACGTACAAGGTTTT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG02015.hp2 HG02055.hp1 HG02258.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18986.hp2 NA19011.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0003c0009 a0003c0013 others(1): Show a0003c0004 a0003c0009 a0003c0013 a0004c0006	a0003c0004t0005 a0003c0004t0006 a0003c0009t0005 others(2): Show a0003c0004t0005 a0003c0004t0006 a0003c0009t0005 a0003c0013t0006 a0004c0006t0006	a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(15): Show a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 a0003c0004t0005g0253 a0003c0004t0005g0254 a0003c0004t0005g0255 a0003c0004t0005g0256 a0003c0004t0005g0257 a0003c0004t0006g0015 a0003c0004t0006g0053 a0003c0009t0005g0040 a0003c0009t0005g0044 a0003c0013t0006g0050 a0004c0006t0006g0214 a0004c0006t0006g0290 a0004c0006t0006g0291 a0004c0006t0006g0292 a0004c0006t0006g0293	21	358	0.0587	-7021	c.658 others(12): Show c.658-470_*109del		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	8/9						chr12	TogoVar
SPATA31F3_chr9_34884066_34900764	34893048	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18989.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043	43	432	0.0995	-1	c.355 others(4): Show c.355delG	p.Ala others(5): Show p.Ala119fs	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/5	397/967	355/627	119/208			chr9	TogoVar
SPATA4_chr4_176179579_176200585	176184858	TTCTC TTCTC	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(12): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG02004.hp2 HG03704.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0001 a0002c0005t0001 a0002c0006t0001	a0002c0005t0001g0013 a0002c0005t0001g0060 a0002c0005t0001g0072 others(2): Show a0002c0005t0001g0013 a0002c0005t0001g0060 a0002c0005t0001g0072 a0002c0006t0001g0015 a0002c0006t0001g0096	15	454	0.0330	-4	c.836 others(11): Show c.836_839delGAGA	p.Arg others(5): Show p.Arg279fs	SPATA4	ENSG00000150628.7	transcript	ENST00000280191.7	protein_coding	6/6	862/1142	836/918	279/305			chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46183498	CAGGGGAG others(309): Show CAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCT GGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAG CCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGAC CAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGA GACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGG GAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT GAGGAGACCAGCCTGGG	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA19043.hp1 NA20752.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0010	a0001c0001 a0001c0003 a0004c0005 others(2): Show a0001c0001 a0001c0003 a0004c0005 a0009c0014 a0010c0017	a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 others(5): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 a0001c0003t0007 a0001c0003t0021 a0004c0005t0002 a0009c0014t0028 a0010c0017t0007	a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0062 others(25): Show a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0008g0023 a0001c0001t0008g0189 a0001c0001t0008g0190 a0001c0001t0008g0191 a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0003t0004g0008 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0028 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0007g0009 a0001c0003t0007g0036 a0001c0003t0007g0037 a0001c0003t0007g0038 a0001c0003t0021g0025 a0004c0005t0002g0060 a0009c0014t0028g0061 a0010c0017t0007g0039	32	226	0.1416	-316	c.-95 others(12): Show c.-958-40_-683del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				683		chr21	TogoVar
SULT1C3_chr2_108234968_108265886	108259008	AAAACTTG others(15): Show AAAACTTGGTCAGGTGATGTTAT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0003 a0014 a0016 a0003 a0014 a0016	a0003c0002 a0003c0027 a0014c0021 others(1): Show a0003c0002 a0003c0027 a0014c0021 a0016c0017	a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 others(2): Show a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 a0014c0021t0002 a0016c0017t0004	a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 others(19): Show a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0032 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0027t0004g0009 a0014c0021t0002g0001 a0016c0017t0004g0002	55	374	0.1471	-22	c.669 others(29): Show c.669_690delTTGGTCAGGTGATGTTATAAAC	p.Trp others(5): Show p.Trp224fs	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/8	792/1244	669/915	223/304		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUZ12_chr17_31932007_32006038	31966130	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp2 HG01070.hp1 others(16): Show HG00280.hp1 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01256.hp2 HG02004.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0004t0012	a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(16): Show a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0011g0082 a0001c0001t0013g0260 a0001c0001t0018g0258 a0001c0001t0019g0259 a0001c0004t0012g0257	19	277	0.0686	1	c.456 others(6): Show c.456-3dupT		SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
TAS2R46_chr12_11056365_11067294	11061546	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19068.hp2 NA19078.hp2 NA19083.hp1 NA19087.hp1 NA20752.hp2	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0009 a0010c0010 a0002c0002 a0006c0009 a0010c0010	a0002c0002t0001 a0006c0009t0001 a0010c0010t0001 a0002c0002t0001 a0006c0009t0001 a0010c0010t0001	a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000	66	294	0.2245	0	c.749 others(3): Show c.749G>A	p.Trp others(4): Show p.Trp250*	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding	1/1	749/930	749/930	250/309			chr12	TogoVar
TBCD_chr17_82747065_82950914	82797739	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0007 a0002c0011 a0002c0025 a0002c0040 a0006c0038 a0006c0039 a0007c0016 a0008c0048 a0010c0020 a0012c0021 a0013c0046 a0014c0034 a0015c0036 a0017c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0006c0038t0005 a0006c0039t0010 a0007c0016t0001 a0008c0048t0017 a0010c0020t0003 a0012c0021t0009 a0013c0046t0011 a0014c0034t0001 a0015c0036t0003 a0017c0022t0005	a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0210 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0258 a0001c0002t0017g0267 a0001c0002t0029g0257 a0001c0002t0030g0244 a0001c0002t0040g0255 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0260 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0212 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0252 a0002c0003t0003g0269 a0002c0003t0003g0283 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0296 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0304 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0295 a0002c0003t0015g0305 a0002c0003t0015g0314 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0107 a0002c0006t0005g0116 a0002c0006t0005g0211 a0002c0006t0005g0213 a0002c0006t0005g0250 a0002c0006t0005g0282 a0002c0006t0005g0298 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0278 a0002c0011t0003g0297 a0002c0025t0002g0131 a0002c0040t0003g0309 a0006c0038t0005g0117 a0006c0039t0010g0080 a0007c0016t0001g0256 a0007c0016t0001g0318 a0008c0048t0017g0174 a0010c0020t0003g0207 a0012c0021t0009g0272 a0013c0046t0011g0233 a0014c0034t0001g0277 a0015c0036t0003g0307 a0017c0022t0005g0284	118	268	0.4403	1	c.772 others(6): Show c.772-3dupT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
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
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
TIGD6_chr5_149988118_150005654	149996157	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0004c0006 a0004c0007 others(2): Show a0004c0004 a0004c0006 a0004c0007 a0004c0013 a0006c0008	a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 others(5): Show a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 a0004c0006t0003 a0004c0006t0015 a0004c0007t0003 a0004c0013t0012 a0006c0008t0008	a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 a0004c0004t0006g0060 a0004c0004t0009g0019 a0004c0004t0017g0072 a0004c0006t0003g0010 a0004c0006t0015g0047 a0004c0007t0003g0021 a0004c0013t0012g0035 a0006c0008t0008g0018	36	434	0.0829	-1	c.191 others(4): Show c.191delG	p.Gly others(4): Show p.Gly64fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	453/3493	191/1566	64/521			chr5	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0014t0001 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0063 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0007t0002g0014 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0064 a0001c0014t0001g0056 a0001c0014t0001g0057 a0001c0014t0001g0058 a0001c0015t0005g0037 a0001c0015t0005g0065 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0018t0007g0059 a0001c0018t0007g0070 a0001c0022t0001g0071 a0001c0023t0001g0001 a0001c0024t0001g0011	165	301	0.5482	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041			chrX	TogoVar
TMEM191C_chr22_21462387_21474935	21469618	CGGTGCGT others(18): Show CGGTGCGTGCTGGGCGCGCTGCAGGT	C C	frameshift_variant frameshift_variant	HIGH	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	2	418	0.0048	-25	c.708 others(32): Show c.708_732delGTGCGTGCTGGGCGCGCTGCAGGTG	p.Val others(5): Show p.Val238fs	TMEM191C	ENSG00000206140.12	transcript	ENST00000536718.3	protein_coding	10/10	781/1096	708/909	236/302		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0010 a0002c0015 others(7): Show a0002c0002 a0002c0010 a0002c0015 a0002c0018 a0002c0020 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0010t0002 a0002c0015t0002 a0002c0018t0002 a0002c0020t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0011g0022 a0002c0002t0019g0058 a0002c0002t0024g0094 a0002c0002t0027g0174 a0002c0010t0002g0023 a0002c0010t0002g0067 a0002c0010t0002g0084 a0002c0010t0002g0087 a0002c0010t0002g0104 a0002c0010t0002g0113 a0002c0015t0002g0105 a0002c0018t0002g0114 a0002c0020t0002g0090 a0003c0005t0006g0028 a0003c0005t0006g0054 a0003c0005t0006g0065 a0003c0005t0006g0070 a0003c0005t0006g0071 a0003c0005t0006g0076 a0003c0005t0006g0078 a0003c0005t0006g0097 a0003c0005t0006g0101 a0003c0005t0006g0112 a0003c0005t0006g0115 a0003c0005t0007g0019 a0003c0005t0007g0069 a0003c0005t0007g0077 a0003c0005t0007g0095 a0003c0005t0007g0107 a0003c0009t0004g0018 a0003c0009t0004g0059 a0003c0009t0004g0060 a0003c0009t0004g0061 a0003c0009t0004g0109 a0003c0009t0004g0110 a0003c0009t0015g0096 a0003c0016t0006g0106 a0003c0017t0004g0068 a0003c0019t0023g0066	100	392	0.2551	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418			chr4	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	CTGGGG CTGGGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0006 a0001c0009 others(21): Show a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0034 a0001c0038 a0001c0039 a0001c0047 a0001c0054 a0001c0072 a0001c0077 a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0062 a0003c0029 a0004c0044 a0004c0060 a0004c0066 a0005c0025	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(22): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0013t0001 a0001c0015t0001 a0001c0034t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0054t0001 a0001c0072t0001 a0001c0077t0001 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0062t0001 a0003c0029t0001 a0004c0044t0001 a0004c0060t0001 a0004c0066t0001 a0005c0025t0001	a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 a0001c0005t0001g0197 a0001c0005t0001g0227 a0001c0005t0001g0245 a0001c0005t0001g0250 a0001c0005t0001g0269 a0001c0005t0002g0016 a0001c0005t0002g0309 a0001c0005t0002g0325 a0001c0005t0002g0329 a0001c0006t0001g0008 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0121 a0001c0006t0001g0127 a0001c0006t0001g0128 a0001c0006t0001g0132 a0001c0006t0001g0133 a0001c0006t0001g0137 a0001c0006t0001g0160 a0001c0006t0001g0294 a0001c0009t0001g0001 a0001c0009t0001g0040 a0001c0009t0001g0055 a0001c0009t0001g0069 a0001c0013t0001g0066 a0001c0015t0001g0163 a0001c0015t0001g0165 a0001c0015t0001g0166 a0001c0015t0001g0167 a0001c0015t0001g0169 a0001c0015t0001g0170 a0001c0034t0001g0162 a0001c0034t0001g0164 a0001c0038t0001g0300 a0001c0039t0001g0259 a0001c0047t0001g0074 a0001c0054t0001g0134 a0001c0072t0001g0032 a0001c0077t0001g0171 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0113 a0002c0001t0001g0161 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0182 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0232 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0263 a0002c0001t0001g0265 a0002c0001t0001g0285 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0012t0001g0183 a0002c0012t0001g0184 a0002c0012t0001g0195 a0002c0012t0001g0214 a0002c0014t0001g0012 a0002c0014t0001g0282 a0002c0016t0001g0047 a0002c0019t0001g0046 a0002c0019t0001g0048 a0002c0019t0001g0067 a0002c0019t0001g0068 a0002c0061t0001g0271 a0002c0062t0001g0181 a0003c0029t0001g0006 a0004c0044t0001g0302 a0004c0060t0001g0255 a0004c0066t0001g0086 a0005c0025t0001g0034 a0005c0025t0001g0035 a0005c0025t0001g0100	125	306	0.4085	-5	c.184 others(18): Show c.1842-6_1842-2delCCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17						chr22	TogoVar
TNK1_chr17_7376089_7394742	7387376	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0011 a0017 a0020	a0001c0001 a0001c0002 a0001c0031 others(5): Show a0001c0001 a0001c0002 a0001c0031 a0003c0007 a0008c0016 a0011c0024 a0017c0028 a0020c0026	a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 a0003c0007t0001 a0008c0016t0001 a0011c0024t0001 a0017c0028t0001 a0020c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0002t0001g0056 a0001c0031t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0047 a0008c0016t0001g0001 a0011c0024t0001g0001 a0017c0028t0001g0028 a0020c0026t0001g0124	56	450	0.1244	0	c.139 others(6): Show c.1398-2A>G		TNK1	ENSG00000174292.13	transcript	ENST00000688331.1	protein_coding	9/12						chr17	TogoVar
TNK2_chr3_195858364_195913551	195868357	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18949.hp1 NA18960.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18992.hp2 NA18993.hp2 NA19030.hp2 NA19054.hp2 NA19083.hp1	a0002 a0010 a0011 others(3): Show a0002 a0010 a0011 a0018 a0024 a0028	a0002c0004 a0002c0008 a0002c0010 others(20): Show a0002c0004 a0002c0008 a0002c0010 a0002c0018 a0002c0023 a0002c0026 a0002c0027 a0002c0041 a0002c0044 a0002c0057 a0002c0060 a0002c0065 a0002c0066 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0010c0079 a0011c0076 a0018c0035 a0024c0051 a0028c0048	a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 others(24): Show a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0018t0001 a0002c0018t0003 a0002c0023t0001 a0002c0026t0001 a0002c0026t0009 a0002c0027t0001 a0002c0041t0001 a0002c0044t0006 a0002c0057t0004 a0002c0060t0001 a0002c0065t0002 a0002c0066t0002 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0010c0079t0001 a0011c0076t0001 a0018c0035t0004 a0024c0051t0001 a0028c0048t0001	a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 a0002c0004t0001g0268 a0002c0004t0001g0281 a0002c0004t0001g0330 a0002c0004t0001g0340 a0002c0004t0001g0347 a0002c0004t0002g0136 a0002c0004t0002g0161 a0002c0004t0002g0237 a0002c0004t0002g0257 a0002c0004t0002g0314 a0002c0004t0002g0320 a0002c0004t0002g0352 a0002c0008t0001g0018 a0002c0008t0001g0183 a0002c0008t0001g0201 a0002c0008t0001g0215 a0002c0008t0002g0174 a0002c0008t0002g0254 a0002c0008t0002g0333 a0002c0010t0001g0032 a0002c0010t0001g0038 a0002c0010t0001g0042 a0002c0010t0001g0050 a0002c0010t0001g0051 a0002c0010t0001g0061 a0002c0018t0001g0139 a0002c0018t0001g0153 a0002c0018t0003g0143 a0002c0023t0001g0025 a0002c0023t0001g0205 a0002c0026t0001g0071 a0002c0026t0009g0102 a0002c0027t0001g0117 a0002c0027t0001g0119 a0002c0041t0001g0034 a0002c0044t0006g0023 a0002c0057t0004g0232 a0002c0060t0001g0236 a0002c0065t0002g0300 a0002c0066t0002g0238 a0002c0067t0001g0086 a0002c0068t0001g0082 a0002c0072t0001g0095 a0002c0073t0001g0078 a0002c0074t0001g0093 a0010c0079t0001g0052 a0011c0076t0001g0080 a0018c0035t0004g0229 a0024c0051t0001g0206 a0028c0048t0001g0125	53	370	0.1432	1	c.194 others(5): Show c.1940dupC	p.Pro others(5): Show p.Pro648fs	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	13/16	2025/4070	1940/3168	647/1055			chr3	TogoVar
TNXB_chr6_32036153_32114338	32042010	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01070.hp1 HG01071.hp2 HG02717.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02717.hp2 HG02738.hp1	a0004 a0023 a0004 a0023	a0004c0061 a0023c0032 a0004c0061 a0023c0032	a0004c0061t0001 a0023c0032t0001 a0004c0061t0001 a0023c0032t0001	a0004c0061t0001g0176 a0023c0032t0001g0180 a0023c0032t0001g0188 others(1): Show a0004c0061t0001g0176 a0023c0032t0001g0180 a0023c0032t0001g0188 a0023c0032t0001g0189	4	400	0.0100	0	c.124 others(7): Show c.12469+2T>C		TNXB	ENSG00000168477.21	transcript	ENST00000644971.2	protein_coding	42/43						chr6	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
TRIM51G_chr11_48970498_48988885	48979006	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0016 a0011c0018 a0012c0010	a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 others(3): Show a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 a0002c0016t0002 a0011c0018t0002 a0012c0010t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0004t0002g0010 a0002c0004t0002g0018 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0044 a0002c0004t0002g0045 a0002c0004t0002g0057 a0002c0004t0002g0062 a0002c0004t0002g0070 a0002c0004t0002g0079 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0086 a0002c0004t0002g0090 a0002c0004t0002g0092 a0002c0004t0002g0094 a0002c0015t0002g0069 a0002c0016t0002g0087 a0011c0018t0002g0072 a0012c0010t0002g0067	139	422	0.3294	0	c.604 others(3): Show c.604C>T	p.Gln others(4): Show p.Gln202*	TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/7	755/1510	604/1359	202/452			chr11	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0036 a0001c0011t0002g0015 a0001c0013t0002g0026 a0001c0013t0002g0043 a0001c0015t0002g0028 a0001c0031t0002g0037 a0001c0032t0002g0038 a0001c0033t0002g0041 a0001c0034t0002g0042 a0001c0035t0002g0044 a0001c0036t0002g0046 a0001c0037t0002g0047 a0001c0038t0002g0049 a0001c0039t0002g0050 a0001c0040t0002g0051 a0001c0041t0002g0052 a0001c0042t0002g0053	177	426	0.4155	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5						chr2	TogoVar
UNC93A_chr6_167286315_167321014	167298071	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02698.hp1 HG03017.hp1 HG03710.hp1 HG03831.hp2 NA18953.hp2 NA18962.hp2 NA19054.hp1 NA19056.hp2 NA19067.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0030 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0003c0003t0006 a0003c0003t0008 a0003c0030t0006 a0007c0006t0002	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(21): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0210 a0001c0001t0002g0330 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0002c0002t0005g0058 a0002c0002t0005g0331 a0002c0002t0005g0332 a0003c0003t0006g0018 a0003c0003t0006g0057 a0003c0003t0006g0333 a0003c0003t0006g0335 a0003c0003t0006g0339 a0003c0003t0006g0344 a0003c0003t0008g0336 a0003c0003t0008g0337 a0003c0030t0006g0346 a0007c0006t0002g0056 a0007c0006t0002g0334 a0007c0006t0002g0338	29	446	0.0650	0	c.625 others(5): Show c.625+1G>C		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	4/7						chr6	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(254): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0009 others(2): Show a0002c0002 a0002c0006 a0002c0009 a0002c0014 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0006t0003 a0002c0006t0020 a0002c0006t0051 a0002c0009t0001 a0002c0014t0063 a0002c0018t0008	a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0071 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0199 a0002c0002t0002g0024 a0002c0002t0002g0041 a0002c0002t0003g0042 a0002c0002t0008g0066 a0002c0002t0008g0085 a0002c0002t0011g0026 a0002c0002t0016g0152 a0002c0002t0031g0091 a0002c0002t0031g0200 a0002c0002t0033g0050 a0002c0002t0048g0067 a0002c0002t0057g0153 a0002c0002t0062g0086 a0002c0006t0003g0108 a0002c0006t0003g0112 a0002c0006t0003g0114 a0002c0006t0020g0072 a0002c0006t0051g0109 a0002c0009t0001g0176 a0002c0009t0001g0260 a0002c0014t0063g0003 a0002c0018t0008g0243	41	299	0.1371	-261	c.735 others(11): Show c.735-229_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
USP17L17_chr4_9238879_9250471	9244406	C C	A A	stop_gained stop_gained	HIGH	HG01071.hp2 HG01071.hp2	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0001 a0031c0032t0001	a0031c0032t0001g0000 a0031c0032t0001g0000	1	198	0.0051	0	c.528 others(3): Show c.528C>A	p.Cys others(4): Show p.Cys176*	USP17L17	ENSG00000249104.3	transcript	ENST00000511568.1	protein_coding	1/1	528/1593	528/1593	176/530			chr4	TogoVar
USP29_chr19_57114985_57136926	57131414	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 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.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0023 a0001c0028 a0002c0002 a0002c0026 a0003c0004 a0005c0010 a0006c0009 a0007c0008 a0008c0012 a0009c0011 a0010c0013 a0011c0016 a0013c0027 a0014c0020 a0015c0018 a0016c0015 a0017c0022 a0018c0024 a0019c0025 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0005t0001 a0001c0007t0004 a0001c0019t0001 a0001c0021t0008 a0001c0023t0004 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0026t0002 a0003c0004t0003 a0003c0004t0006 a0005c0010t0001 a0006c0009t0001 a0007c0008t0002 a0008c0012t0003 a0009c0011t0003 a0010c0013t0001 a0011c0016t0002 a0013c0027t0004 a0014c0020t0001 a0015c0018t0012 a0016c0015t0003 a0017c0022t0001 a0018c0024t0001 a0019c0025t0001 a0020c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0013g0002 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0016 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0004g0008 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0023 a0001c0003t0004g0029 a0001c0003t0004g0055 a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0147 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0179 a0001c0003t0004g0200 a0001c0003t0005g0024 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0067 a0001c0003t0005g0068 a0001c0003t0005g0075 a0001c0003t0007g0018 a0001c0003t0007g0069 a0001c0003t0008g0045 a0001c0003t0008g0099 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0013 a0001c0005t0001g0021 a0001c0007t0004g0029 a0001c0007t0004g0148 a0001c0019t0001g0012 a0001c0021t0008g0100 a0001c0023t0004g0017 a0001c0028t0001g0021 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0175 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0009g0011 a0002c0002t0009g0031 a0002c0002t0010g0058 a0002c0002t0011g0162 a0002c0026t0002g0180 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0025 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0076 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0006g0003 a0003c0004t0006g0009 a0003c0004t0006g0010 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0020 a0006c0009t0001g0026 a0007c0008t0002g0066 a0007c0008t0002g0199 a0008c0012t0003g0007 a0009c0011t0003g0041 a0010c0013t0001g0001 a0011c0016t0002g0201 a0013c0027t0004g0014 a0014c0020t0001g0004 a0015c0018t0012g0197 a0016c0015t0003g0007 a0017c0022t0001g0071 a0018c0024t0001g0131 a0019c0025t0001g0027 a0020c0017t0002g0176	406	414	0.9807	0	c.273 others(4): Show c.2739C>A	p.Tyr others(4): Show p.Tyr913*	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding	4/4	3251/3763	2739/2769	913/922			chr19	TogoVar
VCX3B_chrX_8459830_8471510	8464991	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0026 a0027 a0028 a0031 a0035 a0036 a0039 a0040	a0001c0001 a0001c0009 a0001c0042 others(26): Show a0001c0001 a0001c0009 a0001c0042 a0002c0002 a0003c0003 a0003c0026 a0004c0005 a0004c0024 a0005c0004 a0007c0008 a0008c0007 a0009c0010 a0010c0011 a0012c0014 a0013c0021 a0014c0012 a0015c0015 a0016c0020 a0017c0017 a0018c0016 a0019c0019 a0026c0051 a0027c0035 a0028c0046 a0031c0036 a0035c0027 a0036c0049 a0039c0050 a0040c0029	a0001c0001t0001 a0001c0001t0021 a0001c0009t0002 others(44): Show a0001c0001t0001 a0001c0001t0021 a0001c0009t0002 a0001c0042t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0014 a0002c0002t0027 a0002c0002t0028 a0002c0002t0030 a0003c0003t0001 a0003c0003t0006 a0003c0003t0008 a0003c0026t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0007 a0004c0005t0011 a0004c0005t0014 a0004c0005t0029 a0004c0024t0003 a0005c0004t0001 a0005c0004t0006 a0005c0004t0007 a0005c0004t0022 a0005c0004t0026 a0007c0008t0001 a0007c0008t0005 a0008c0007t0002 a0009c0010t0001 a0010c0011t0001 a0012c0014t0006 a0013c0021t0004 a0014c0012t0013 a0015c0015t0005 a0016c0020t0001 a0017c0017t0005 a0018c0016t0001 a0019c0019t0002 a0026c0051t0001 a0027c0035t0001 a0028c0046t0020 a0031c0036t0005 a0035c0027t0001 a0036c0049t0005 a0039c0050t0002 a0040c0029t0006	a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 a0001c0009t0002g0015 a0001c0042t0001g0011 a0002c0002t0002g0001 a0002c0002t0002g0015 a0002c0002t0002g0022 a0002c0002t0007g0001 a0002c0002t0014g0025 a0002c0002t0027g0001 a0002c0002t0028g0001 a0002c0002t0030g0001 a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0027 a0003c0003t0006g0004 a0003c0003t0008g0004 a0003c0026t0001g0005 a0004c0005t0001g0009 a0004c0005t0002g0001 a0004c0005t0007g0001 a0004c0005t0011g0014 a0004c0005t0014g0001 a0004c0005t0029g0001 a0004c0024t0003g0020 a0005c0004t0001g0004 a0005c0004t0001g0005 a0005c0004t0001g0008 a0005c0004t0001g0009 a0005c0004t0001g0012 a0005c0004t0001g0028 a0005c0004t0001g0029 a0005c0004t0006g0004 a0005c0004t0007g0001 a0005c0004t0007g0024 a0005c0004t0022g0009 a0005c0004t0026g0005 a0007c0008t0001g0004 a0007c0008t0005g0004 a0008c0007t0002g0023 a0009c0010t0001g0005 a0009c0010t0001g0011 a0010c0011t0001g0010 a0012c0014t0006g0012 a0013c0021t0004g0017 a0014c0012t0013g0004 a0015c0015t0005g0004 a0016c0020t0001g0004 a0016c0020t0001g0009 a0017c0017t0005g0005 a0018c0016t0001g0005 a0018c0016t0001g0009 a0019c0019t0002g0001 a0026c0051t0001g0021 a0027c0035t0001g0010 a0028c0046t0020g0026 a0031c0036t0005g0004 a0035c0027t0001g0005 a0036c0049t0005g0004 a0039c0050t0002g0001 a0040c0029t0006g0004	137	270	0.5074	0	c.-14 others(6): Show c.-147+1G>A		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	1/2						chrX	TogoVar
VDR_chr12_47836537_47909994	47879112	A A	G G	start_lost start_lost	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0018 a0001c0003t0024 a0001c0003t0030 a0001c0003t0036 a0001c0003t0041 a0001c0003t0043 a0001c0003t0048 a0001c0003t0065 a0001c0006t0026 a0001c0007t0012 a0001c0008t0002 a0001c0008t0010 a0001c0009t0014 a0001c0009t0061 a0001c0011t0049 a0001c0012t0001 a0001c0013t0042 a0001c0014t0025 a0001c0015t0011 a0001c0016t0025	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0170 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0201 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0254 a0001c0001t0003g0265 a0001c0001t0004g0027 a0001c0001t0004g0038 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0163 a0001c0001t0004g0169 a0001c0001t0004g0232 a0001c0001t0004g0264 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0322 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0005g0079 a0001c0001t0005g0091 a0001c0001t0005g0110 a0001c0001t0005g0134 a0001c0001t0005g0141 a0001c0001t0005g0166 a0001c0001t0005g0243 a0001c0001t0005g0259 a0001c0001t0005g0313 a0001c0001t0006g0011 a0001c0001t0006g0015 a0001c0001t0006g0116 a0001c0001t0006g0149 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0209 a0001c0001t0006g0220 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0251 a0001c0001t0006g0308 a0001c0001t0007g0043 a0001c0001t0007g0074 a0001c0001t0007g0087 a0001c0001t0007g0128 a0001c0001t0007g0171 a0001c0001t0007g0200 a0001c0001t0007g0233 a0001c0001t0008g0271 a0001c0001t0008g0277 a0001c0001t0008g0328 a0001c0001t0008g0338 a0001c0001t0009g0343 a0001c0001t0009g0350 a0001c0001t0011g0054 a0001c0001t0011g0211 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0013g0007 a0001c0001t0013g0112 a0001c0001t0013g0260 a0001c0001t0013g0300 a0001c0001t0014g0032 a0001c0001t0014g0316 a0001c0001t0015g0327 a0001c0001t0015g0335 a0001c0001t0016g0026 a0001c0001t0016g0341 a0001c0001t0017g0055 a0001c0001t0017g0349 a0001c0001t0019g0133 a0001c0001t0019g0199 a0001c0001t0020g0107 a0001c0001t0021g0044 a0001c0001t0021g0078 a0001c0001t0022g0033 a0001c0001t0022g0034 a0001c0001t0022g0295 a0001c0001t0023g0002 a0001c0001t0027g0004 a0001c0001t0028g0280 a0001c0001t0028g0299 a0001c0001t0029g0047 a0001c0001t0029g0317 a0001c0001t0032g0290 a0001c0001t0033g0276 a0001c0001t0034g0351 a0001c0001t0035g0324 a0001c0001t0037g0208 a0001c0001t0038g0180 a0001c0001t0039g0025 a0001c0001t0044g0257 a0001c0001t0045g0348 a0001c0001t0046g0206 a0001c0001t0051g0286 a0001c0001t0052g0294 a0001c0001t0054g0159 a0001c0001t0055g0293 a0001c0001t0056g0285 a0001c0001t0058g0036 a0001c0001t0059g0241 a0001c0001t0062g0189 a0001c0001t0063g0235 a0001c0001t0064g0336 a0001c0001t0067g0204 a0001c0001t0068g0334 a0001c0001t0069g0194 a0001c0003t0002g0009 a0001c0003t0002g0021 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0040 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0093 a0001c0003t0002g0132 a0001c0003t0002g0143 a0001c0003t0002g0148 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0195 a0001c0003t0002g0219 a0001c0003t0002g0226 a0001c0003t0002g0229 a0001c0003t0002g0237 a0001c0003t0002g0244 a0001c0003t0002g0248 a0001c0003t0002g0287 a0001c0003t0002g0296 a0001c0003t0002g0319 a0001c0003t0002g0340 a0001c0003t0002g0344 a0001c0003t0002g0345 a0001c0003t0007g0181 a0001c0003t0009g0056 a0001c0003t0009g0120 a0001c0003t0009g0183 a0001c0003t0009g0193 a0001c0003t0010g0210 a0001c0003t0010g0249 a0001c0003t0010g0331 a0001c0003t0017g0329 a0001c0003t0018g0010 a0001c0003t0018g0256 a0001c0003t0024g0053 a0001c0003t0024g0304 a0001c0003t0030g0332 a0001c0003t0036g0072 a0001c0003t0041g0314 a0001c0003t0043g0297 a0001c0003t0048g0070 a0001c0003t0065g0333 a0001c0006t0026g0121 a0001c0006t0026g0354 a0001c0007t0012g0105 a0001c0007t0012g0106 a0001c0008t0002g0330 a0001c0008t0010g0279 a0001c0009t0014g0281 a0001c0009t0061g0305 a0001c0011t0049g0046 a0001c0012t0001g0311 a0001c0013t0042g0039 a0001c0014t0025g0323 a0001c0015t0011g0214 a0001c0016t0025g0030	239	356	0.6713	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	3/10	125/4616	2/1284	1/427			chr12	TogoVar
VWA7_chr6_31760590_31782328	31772983	T T	TGGACAGG others(7): Show TGGACAGGCTCCATG	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00738.hp1 HG01069.hp2 others(3): Show HG00099.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG02257.hp2 NA20905.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0024 a0004c0003t0001g0210 a0004c0003t0001g0211 others(1): Show a0004c0003t0001g0024 a0004c0003t0001g0210 a0004c0003t0001g0211 a0004c0003t0001g0212	6	422	0.0142	14	c.104 others(23): Show c.1044_1057dupCATGGAGCCTGTCC	p.His others(5): Show p.His353fs	VWA7	ENSG00000204396.11	transcript	ENST00000375688.5	protein_coding	7/17	1292/2915	1057/2676	353/891			chr6	TogoVar
ZACN_chr17_76074182_76087806	76081716	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01515.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG03195.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0003 a0007 a0011 a0003 a0007 a0011	a0003c0003 a0003c0012 a0007c0010 others(1): Show a0003c0003 a0003c0012 a0007c0010 a0011c0013	a0003c0003t0001 a0003c0012t0001 a0007c0010t0001 others(1): Show a0003c0003t0001 a0003c0012t0001 a0007c0010t0001 a0011c0013t0001	a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0022 others(5): Show a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0022 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0012t0001g0001 a0007c0010t0001g0001 a0011c0013t0001g0001	89	390	0.2282	0	c.841 others(3): Show c.841C>T	p.Gln others(4): Show p.Gln281*	ZACN	ENSG00000186919.13	transcript	ENST00000334586.10	protein_coding	7/9	924/1475	841/1239	281/412			chr17	TogoVar

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