Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ABCB5_chr7_20610667_20762008	20626612	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1	a0002 a0003 a0005 others(10): Show a0002 a0003 a0005 a0008 a0010 a0013 a0034 a0037 a0060 a0061 a0064 a0065 a0066	a0002c0003 a0003c0002 a0003c0010 others(13): Show a0002c0003 a0003c0002 a0003c0010 a0005c0015 a0008c0009 a0008c0027 a0010c0017 a0013c0022 a0013c0023 a0034c0052 a0037c0055 a0060c0051 a0061c0058 a0064c0054 a0065c0050 a0066c0057	a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 others(19): Show a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0005c0015t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0010c0017t0007 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0034c0052t0002 a0037c0055t0001 a0060c0051t0001 a0061c0058t0001 a0064c0054t0001 a0065c0050t0001 a0066c0057t0008	a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0164 a0003c0002t0001g0166 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0178 a0003c0002t0001g0181 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0328 a0003c0002t0001g0331 a0003c0002t0002g0147 a0003c0002t0002g0159 a0003c0002t0002g0171 a0003c0002t0002g0187 a0003c0002t0015g0334 a0003c0010t0001g0133 a0003c0010t0001g0163 a0003c0010t0001g0199 a0003c0010t0001g0205 a0003c0010t0001g0333 a0003c0010t0002g0149 a0003c0010t0002g0188 a0003c0010t0002g0201 a0003c0010t0002g0332 a0005c0015t0004g0215 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0010c0017t0007g0054 a0013c0022t0001g0180 a0013c0022t0021g0161 a0013c0023t0001g0174 a0013c0023t0001g0175 a0013c0023t0001g0182 a0034c0052t0002g0204 a0037c0055t0001g0203 a0060c0051t0001g0176 a0061c0058t0001g0165 a0064c0054t0001g0167 a0065c0050t0001g0329 a0066c0057t0008g0202	70	358	0.1955	0	c.108 others(5): Show c.108+1G>C		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27					chr7	TogoVar
ACAD11_chr3_132553141_132664809	132618633	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show HG00673.hp2 HG01069.hp1 HG01071.hp2 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02559.hp2 HG02738.hp2 HG03195.hp1 HG03491.hp1 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0133 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288	19	314	0.0605	0	c.141 others(6): Show c.1414+1G>T		ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	11/19					chr3	TogoVar
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0013 a0014 others(1): Show a0002 a0013 a0014 a0019	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0013c0016 a0014c0029 a0019c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0013c0016t0001 a0014c0029t0001 a0019c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0121 a0002c0002t0001g0140 a0002c0002t0003g0039 a0002c0008t0001g0041 a0002c0008t0001g0100 a0002c0011t0001g0001 a0002c0011t0001g0012 a0002c0024t0001g0093 a0002c0025t0001g0004 a0002c0026t0001g0109 a0002c0027t0001g0001 a0013c0016t0001g0001 a0014c0029t0001g0036 a0019c0028t0001g0001	150	398	0.3769	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901		chr11	TogoVar
ADGRL1_chr19_14142743_14211169	14151435	AGCTCTGA others(24): Show AGCTCTGAGATGATCATCTTCTCAAAGGCCGC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp2 NA18955.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0019 a0006c0013t0019	a0006c0013t0019g0170 a0006c0013t0019g0170	1	220	0.0045	-31	c.381 others(40): Show c.3817_3847delGCGGCCTTTGAGAAGATGATCATCTCAGAGC	p.Ala others(6): Show p.Ala1273fs	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	23/23	4127/7820	3817/4410	1273/1469		chr19	TogoVar
AFP_chr4_73431221_73461174	73447055	CGGACACT others(1268): Show CGGACACTATTAGAGGAGGGATTTGTGTAGCACTTAGGACATTATACTTG ATAATTTCCAAGGGTCTTTCTAGATTTAAAAGTCTGATTCTAACGTAGTA ATAAAAATAAAGGCCCAATTTTCTCTTTAATATTGGCTGAAGATATTACT CTATTATTGCATTAAAATTAAACATTCACACATTGTTTGCACTGCTAAAT AAAATTATGTAATTTCTTCTTCTTTCCTTCCTCCTTCCTCCATCCCTCTC TATTTCCCTTTCCCCTTCCTTCTTTCCTGGCCTTTTTTCCTTCTTTCTTT GTTCCCTTCTCCCTCCCTCCCCTTTCTTCCTTTTTCTAAAGCTGGCTTTG AGATCCTTTATTAAAGAATAAATCTTTAAAACTTATACTTTATTTTCTCT GTTGCAGGAAAAAATCATGTCCTACATATGTTCTCAACAAGACACTCTGT CAAACAAAATAACAGAATGCTGCAAACTGACCACGCTGGAACGTGGTCAA TGTATAATTCATGCAGAAAATGATGAAAAACCTGAAGGTCTATCTCCAAA TCTAAACAGGTTTTTAGGAGATAGAGATTTTAACCAATTTTCTTCAGGGG AAAAAAATATCTTCTTGGCAAGGTAACACACTCTGTAAATGCATGTTCAT GCAAGTAAAAATGATTATGTGGCTGACAGATTTGCGTTGTTGAAATGGAG AGTGATGATTATGGTTTTTGAGTTCAATATGTGAGGATATTTGGCTAGAA TGTTCTGAGCCAAAATAGATTTCAGTAGATAACCAGGGAATAAGTAATGG GATTTGGTGTTTAACGGTGAAGCGTTCACCACTGTGACTCATTAACTGCT TTGCTTATGAAGCTGAATTTTATTTCACATCAATTTCTCTGGAATCAGAA GCATTGTCATCCTGTAAAGATTACTCATATCAAGGCCACCATTGAACTCT CAAATAGGATATGGATATTTTTGTAATAAGAAGAGTTCATGATTAAGAAT GAACTCTTGCTACGCATGTTAAAAAAAAAACTTTTCTCCAAAAGATAACA CAAGAGATAATGCTAGGTAGAAGAACTTTTATAGGAACAGCTTATTGGCT ATGTATTAAATACATGTTTTGTATTTTTTAAGAAAATCAAAACATGTTTA GAGACATTTGCAGTACAGTAGTTTGTTTTAATACAACTGATAGGTCACGT TCTCACTCTATTTGCCTTTAAGGGAAGAAAGCAATCAAGTTAATACGTTT TCCTTCATTGTATAGTATGTAACTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp1 NA18955.hp2 HG00642.hp1 NA18955.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0076 a0005c0008t0002g0083 a0005c0008t0002g0076 a0005c0008t0002g0083	2	387	0.0052	-1275	c.844 others(16): Show c.844-272_1058+788del		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): 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 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.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 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.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 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.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 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0023 a0001c0025 a0002c0002 a0004c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0016 a0011c0014 a0012c0017 a0013c0020 a0014c0019 a0015c0028 a0016c0021 a0017c0027 a0018c0026 a0019c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0002c0002t0002 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0004c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0016t0006 a0011c0014t0017 a0011c0014t0018 a0012c0017t0009 a0013c0020t0001 a0014c0019t0001 a0015c0028t0002 a0016c0021t0001 a0017c0027t0002 a0018c0026t0014 a0019c0018t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0006g0176 a0001c0001t0007g0042 a0001c0001t0009g0126 a0001c0001t0011g0051 a0001c0001t0013g0119 a0001c0001t0015g0117 a0001c0007t0001g0022 a0001c0007t0001g0056 a0001c0007t0001g0059 a0001c0007t0001g0090 a0001c0007t0001g0094 a0001c0007t0012g0098 a0001c0009t0005g0083 a0001c0009t0005g0084 a0001c0009t0005g0085 a0001c0011t0001g0055 a0001c0011t0001g0057 a0001c0011t0001g0058 a0001c0015t0004g0048 a0001c0022t0001g0124 a0001c0023t0001g0145 a0001c0025t0001g0133 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0020g0156 a0002c0002t0021g0160 a0002c0002t0022g0164 a0002c0002t0023g0162 a0002c0002t0024g0191 a0004c0003t0001g0013 a0004c0003t0001g0021 a0004c0003t0001g0036 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0095 a0004c0003t0001g0097 a0004c0003t0001g0100 a0004c0003t0001g0151 a0005c0005t0001g0003 a0005c0005t0001g0035 a0005c0005t0001g0089 a0005c0005t0001g0103 a0006c0006t0001g0005 a0006c0006t0001g0105 a0007c0008t0001g0031 a0007c0008t0001g0060 a0007c0008t0001g0062 a0007c0008t0001g0063 a0007c0008t0001g0064 a0008c0012t0010g0177 a0008c0012t0010g0178 a0008c0013t0008g0065 a0008c0013t0008g0066 a0009c0010t0001g0028 a0010c0016t0006g0049 a0011c0014t0017g0081 a0011c0014t0018g0080 a0012c0017t0009g0115 a0013c0020t0001g0101 a0014c0019t0001g0099 a0015c0028t0002g0159 a0016c0021t0001g0129 a0017c0027t0002g0155 a0018c0026t0014g0082 a0019c0018t0019g0152	372	388	0.9588	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9					chr11	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 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 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	208	378	0.5503	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKRD30B_chr18_14743172_14859667	14803765	TGTGTTTA others(10880): Show TGTGTTTACCCAAGGCTACACATCAAAAAGAATTCGATACCTTAAGTGGA AAATTAGAAGGTAAGAACCATATTTTATTTAAAAAGTCATTTGACCAAAT GTTTCTCTGAACTGATGAGGAGGGATATCCCCTAATAGCTGAAGAAAATT ACCTCCTGAATGCAAAGCATGGAAAAAAAGAGAAGTGAAATGGTGATAAG TTATACGTCTTATCATGTGTTGGCAGCAGACTACATAGAGAGTGCTGGAA AGGAACTGAATTATTAGTTTGAATTCAAGGTATTCCAAGAGCTGAGGAAA ATGAGAAAATAAGAAAGGAGAAAGTAGTAAAAGAGGAAATGAAGATCGAG AAAGACAGAGAGTACAGAGAGGACGGGAAGGAACAAGAGGCAGGTTTATA TAATGGAGGATGGTAAAATGAAATGATTCTTTAGGAAAAGATCGGGTATG GTTAGAAATTTGGGAAGAATATAAAGTGACTTTCCAGTGCCAAAACATAC CAGAGAATTACAGCAAAAATATTCTGACTCTTCCTGTCTTTCTCACTGGT GGGAAGCCATTAGGGATGGAAGCAGCTGACCATGGAGAGCTGTGTTCTAT TTGCAATAGTTGAGAATAAGCATATATGCACGGCCACACATGTATATAAT TTGTCATATACACTCCGTATAGACCGTAAGTTTTCAAACTTTAGAAAACC GTCTGAAAACCTTGTTAACAATTCACACTGTGATTCAGCCGACTAGGGAT TCTGCATTTTTAGTAAGTTGTCAGGCGATGCTGATGCTGGTGGTCGTTGG ACCTTGCTCTGAGTAGCAAGATGAGAGACCTTTGTGGGAAAAAATGTGGA AGAAGGGCCATTGGGTAGAAGGTCAGGACAGAAAAGGGTCAGGAGAAAGC ATTATGGTGCTCCTATTTTTGAGTATGTTTTTAGTTAGGGGAGAAGAAGA AAGGGGCAATGGAATAGAAATTGTAGATGGAAGATACTACTTCTATACAA AGAAAAAGGAAAGAGTGTGTGTTGAATGGGAAGAATCAAGAACACAAGTC TAGTGATTACTTTTGCTAAAGAAGAGAGATTATGAGGCAGGAAGCAGGGG ACAAGAGAGAAGCCAGCTAGATTATTTTGGATTTTGTATGAAGGAAAATG GAGTGAACTCACTTCGGAAGCATTTAGAATATTTTTACTGCAGAATGTTA GAGTGTGGGTGCTCCAGAGACTTTTGGAATCATGAGGATTACTAGAATAG GACTAAACCTCAGTGACTCATTAATTTTCTTTATTACTATGAGGCATCAA ATATATATATATATGTATATATTTTGTTGATATTCACAATTTGAATAAGA CATACTAGAATGTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTG TTGGTAAAATTGCCATTTTATAAAACCTCATTAGCGAATAACATGATATA CCAAACCAGACTAATTTTAAAAACCATAATTCTGAATTTATGACTTGAAT ACTTAAATTGTTGTTATTCATAGGTATTTTACTGATTTTAACCTAGAAAA TTTTGTTAATATTTAATAAGTCTGTTGAAACTAAATTTATAACAAATACA TCAATATTGAGGGCCAATTAAATTTGCTGTTCCTGATGAGGTTTGTACAT CTTCCTCCATCAGTGGATCAAGAAATATTGAGATGGCAAAGCTAGAAATT ACAAAAATGTTGGATACTATTGTAGCATACGGGTATGAAAATCAATGAAT ATTTATATTTAGTATTATGCTCCAAGTATATATCCAAGCTGATCAATTCA TAACACTTTCACTGATGAGATGTCAAATCTACATTCAGCTGAACTCTCAT CCGAACTGTGTACTTTCTCAATGACAGGACATATTAAAGAACATGATGAA TATTTGTAATGATATAAATTATTATAATGTGTTGCATTAAAGACACATGG TGTAGCATTCTACGTTCAGCTTTTGCATTTATTTTCTCAGTGTCATGATT TGCTCCTCTGATTCAAGATCACTTATCTCCTCATCACTCAGCGTATACAT ATTGGCATTAACATTTTTTGCAAAAATCATATATAAATGGGTGTACAATG TTCTTGTCATTCTACAGCAACTTTTTATTTTTTGTTCAGCGATTAGCTTG TTTTTCATTTATTTAAAGATTTCAGGCCAGGCGTGGTGACTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAATAAAAATAC AAAAAATTAGCCGGGCGTGGCGGTGGGTGCCTGTAGTCCCAGCCACTCAG GAGGTTGAGGCAGGAGAATGGCCTGAACCCGGGAGGTGGAGCTTACAGTC AGCCCAGATCTCAACACTGCCCTCCAGCCTGGGTGACAGGGCGAGACACC GCCAAAAAAAAAAAAGAAAAAAAAAATCATAGTGTGCATTTTTACTTTCC ACCACATTTAATTAGACTCTCTTCATGGTGACTAAAAAGCATCATAATAA TTACAGATGTCAGCAAGCCTTTGTTTAAGTGTATGTCCTACTTCACGCTA TATTAGAAATTAAAAGTGAAGTAATTAAAATGCAAGGATGCACAGCCATA CATTTCAATAGCCATTACAAATGTGGCTCACTAATCTTTAGAGCCATGCC ATGTGACCCGTCCTGATTTTAAAATCTCCAGTGTACCCCTTTATAAAAAG AAAGTAATTTAAAAAAATAACGAAGGTAGTATTTCCCTGCTTGCTTCCTC TGCATGGATTTTGAACTTCAGGGATAATCAGATCACATTTTAGAACCAGA GTTTTCAACCATAAATAGGATTCCTAAATGCCAAGTGATAAACGGTTCGT TGATGATGAGATAGCTCTGAATGTTTCATCTCTGCGTGTTTTGCTTTTTT ATCTTGTCTTAGAAAGGTCAAAGCCAGCTATTTTCTTCATAAAGGAAAAT ATTTTGGTTACATACTCATTTCCTATCTCATGACACTCTGCTTTCTTTGC ACTTAGTGAGGATGTACATTTATCATATTTTTACCTAAAACAAGCAGATG AATTAATGGTATCATTTCCTATATACGAATTTCTGAGGTTTCTTCAGTGC TTCAGAAGTAAAGTTTAAAGATATTAATGAATCGAGAACGACCTTCTCAT CGTAATTAAAGCGGGTTTTTATTTAAAGTGTATTGAATACAATTTTAAGC ACTTTTTTTCTAAAACACATACCTGCAACACGGTCATGCATATTTAGCCT TAAAATGCTTGCACATAAATTTTGTGTGTTTTAGAGAGTTTATGTCCCCT GAAGTGTCTTCATTACTGATCAATCAACTCCAAAGGAAACAACATATATA CTTGACATGTCTAAATATATTAAAGTGTGTCTTACTGAAAAATAACAAAG TAGAGAAAAATGAGAGATTAAGCATGTTGTATTCATATTATTTGAGGAAA TGAGATATATTTCTATGTCAAAGAAATGTCTGTTTTTTTCTTGAAGCTAA GCTTTCTATAAAAGCTTTTTCATAACAGTGGTTTAACAACTCGCATGGTA TAACAAATAGAATTAGTTTTAGCAAAGCAAAGCAATTGTAGAATTCATTC CTTGAACAATAAAACTGTTATTTTCAATAACCATTATTCTAACATTGAAA TATGCAGGTTAATGATATGTAAAAAGTCTCTGGAAATTGACATCTAATTT TTGATACTTTCATATCAGGTGTTTTTTCTTTTGTTGAGACAGAGTCTCGC TCTGTCATCCAGGCTGGAGTGCAGGGGCATGATCTTGACTCACTGCCACC TGGGCCTCCTGGGTTCAAGTGATTCTCACAGCTCCGGCTCCCAAGTAGCT GCGGTTACAGGCATGTGCCACCATACCTGGATGATTTTTGTATTTTTTGT GGAGACAGGGTTTCGCTATTTTGGCCAGGCTGCTTTGGAACTCCTGGCCT TGAGAGATCCACCCTCTTCGGGTTTCCAAGGTTCTGGAGATACAGGCATG AGCCACGGCACCTGGACTGTATTAGTTTGTGGATGGGTGTGCTTTGACTT TTCTGTATAAGTGGATCAGGAAATTTTGAGAGGACTAAACCAGAGAACCC CATAAATGTAAAAATACTCCTATATCACAGAGTATCAAAAATAAATATAT TCATAACTTTTATTCTATAAGTAGATATTTATGCTGATAAATTTAGAACA TCCTCTGCAATGATAAGTAAATTGTACCTTTGAATTCTCATCGGAGCTTT GCAATTCTTAAATTACAGGACAAATTGAAGAACATAATAGCTACTTGCAG TATATTGACATAAGAGATTCTGATGTGTTTCCTTAACAATATGTCATAGC ATTCTACCATTACCTAGGACTTATTTTTTTTTTGGCGGGGGGTCATGACT TGGTCATCTTAATAAATTCAACTTCTTTCCCTATACGGCAGATTAATCTT ACTGGTATTAGGATTTTTCTACTTTAGTTATTGTCAGTTGAAATATATTT TGACTGTTGAAATCTTCATAGCACGTTTGATGAAATTTATTTTTTAAATT TTCTTAAGTATATTTCTGTCCCATTGGCATGTTAACAAATACAAAAACCC AAAAGACCCCAAAACCTAGTGTAATCCCTTTTCAATCCAAGCATGAGGAC TCATCTTCATATTCACATTGTACGAATGCTTGGTAGGCTTTGTCAGGCTT GCATATAATCAATTATATATGTCCCTTTTCTTTTAGAGTCTCCTGATAAA GATGGTCTTCTGAAGGTAATTACTTTTATATTTCTATGTTGAATATTAAC TACATATTTTTGAAGTATACATTATATATTAATTTTTGTGTTTCCAAACC CATTTAGCCTACCTGTGGAAGGAAAGTTTCTCTTCCAAATAAAGCCTTAG AATTAAAGGACAGAGAAACACTCAAAGCAGGTAAATTTTGTAATTTAAAT TTTAATCTGGAATTAAGAATATTAAACTATTTGAAATGCCAAGAGCCTTT TATTCCCAATGTTGTTTTCTTTAGAAAATTTGGTGGGAAAATTTGATACA AATAATGCAAATGTTAGTATTTATGTTTGAGAAAATGTCATTTAGAAGCA TAAGATTTAGAGATAAAAAAAATTCAGCTTTGCCTCATGTGGATATCTGT CCAGCAGCCTGCAATGCAATGGGGCCTTGTCTTTGTTCCCAGGTGGATCG GCAGGTTGAGAAAGAATAGACACAGACAAGATAGTGAAAGCTGGGTCCAG GGGAATCACAGCCTTGTGTTCCCGTGGTGCCAACAATTCACTAGATATAC CCGCATTTACTATTAAGTTTAGTGAGGGTGGGGGTGGGTTAATGAGGGAT TTAGGGTCATTTGATTTTGAGGTGAGATGGTCACATGGGGATGAAGTAAT TCTTTAACTAACATCTGTATGCAGAAATACAGTACACAGGGATAAGAATT TACAATATAGTGTGTGCATCGGTAATTTCTAACAGAGCCTTAAAAAAGAA ACACAGTCTTTCCATAACCTATGATTAGCAAGATATTAATCAGCAGTAAC AGTTGCAGCAAAAGCTGGTTAGAAACAATCCATAGAAACACAATGTGAAG CTAGACAACTGGTTAGACCAGAAATTCTCAGAAGGGAGTATGCCTTAACC CTAAAGAGGCCTAGAAGAGCCATGGCGAGATGAGGGCGTTCATAGCACTA TCTTATCCATATGGACAGGCACCCCCCATGCATCTGTTTATAGGCTCTCC ACAAGGGTAGCATTCCATTCCCAGAGCTATGAACATATGCCTTTCTGGGA TAGGAATCTTGGTGATGCAAAACCTCCCTGACTGCACGTCCATTCACAGG CTCTCTGCAGGGGGAAACACATCACGCGCTGTTGGCTCATTCTGGCAGTC CAACCTGGCATTGTCTTTACACAATCCTGCATGCAATTTTGTTTTACAAT AATCAGGAGCATTGCATCTTTCATTCCATAGCAATAGTTTCAGGGAGTCT TCCTACAGTTGACATGTTAACAAATACAATAACCCAAAAGACCCCAAAAC CTAGTGTAATCCCTTTTCAATCCAAGCATGAGGATTCATCTTCATATTCA CACTCTATGAACATTTGGTAGGCTTTGTCAGGCTTGCATATAATCAATTA TATATGTCCCTTTTCTTTTAGAGTCTCCTGATAAAGATGGTCTTCTGAAG GTAATAACTTTTATATTTTTATCTTGAATATTACCTACATATTTTATGAA GTATACATTATCTATTAATTTTTGTGTTTCCAAACCCATTTAGCCTACCT GTGTAAGGAAAGTTTCTCTTCCAAATAAAGCCTTAGAATTAAAGGACAGA GAAACATTAAAAGCAGGTAAACTTTGTAATTTAAATTTTACTCTGGAATT AAGAATATTAAACTATTTGAAATGCTGAGAGCCTTTTATTCCCAAAGTTG TTTTCTTTTGAAAATTTGATGGGAAAATTTGATACAAATAATGCAAATGT TAGTATTTATGTTTGAGAAAATGCCATTTAGAAGCATAAGAATTAGGGAT TTAGAAAAAAATTCTGCTTTACGTCATGTGGTTCTTCTTTAATATCCCGA TAGTGTAAAGTTTCCAATTTGCAATTTCTGTACGTGCTCAGTTTTACGGC AGGTGAATTTTGAAACTGTGAAATATTTTCAGTGGTTCAAATGCTGACTG GAATTCTGATCTTTACTTTGAGGAAAGTTTCACTTGCTGACGTGACAGTT GTGAGTGTTGTCATTCTGAGAATCTAAAGAAAATCAGTTTCTTGTTTTTC TGATTAGGTGACTGAGTGTGTGTGTGTGTGTGACATATAATTTTTAAAAA TCACTACTTGATGACTCTTTGCTAGACACACTGTTTTAGAAGTGTGACTC TAAAGCTTTTGGCCTTGGTGTCTTTTTATGCTACTGTAATTAATTGCCTA GAGGTACAAAACAGCCTGAATTAATTTTTGTTGTCATTCCCATGCATGTT TAAATCATGTTACAACAGGCTGTGCATGGTGGCACATGCCTGTAATCCTG GCAATTTAGGAGACCAAGGTGGGCAGATTACTTAAGGTCAGGAGTCGCAG ACGAGCCTGGTCAACACAGTGAAACCCCATCGCTACTAAAAATAACAAAC AATAGCCGGTTGTGGTGGTGGGTGCCCGTAATCTCAGCTATTCTGGAGGC TGAGGCAGGAGAATTGCTTGAACCCATGAGGCAGAAGTTGCAGTGAGCCA AGCTTGTGCCACTTTAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAA GCAAACAAACAACCATAAATTCACAACATATGTGTGTGGTTCTGACTATG TGTAGAATTTGTTTTGACGTCTTAAATTTTCTTTTTTTTTTAAATTTTGA TATGGCGTCTCGCTGTCTCGCCCATCTCGTTGTCTCGCCCAGGCTGGAGA GCAGTGGTGTGATCTTGGCGCACTGCAAGCTCCACCTCCCGGCTTCACGC CATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGAATCCAGGCGCCCACCA CAACGCCTGGCTCATTCTTTGTATTTTTAGTAGAAACGGGGTTTCACCAT GTTAGCCAGGATGGTCTTGACCTGCTGACCTTGTAATCCACCCACCTCGG CCTCCTAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCGGCCCAGA GTCTTTTTACACTAGTACCATTTATTGCCTAGAAGTAACCAATATTCTAA ACTACTTTTTAAAAGTATTCTTATGCATGTTTAAACATTTTCCAACATGT GTACGTGGTCATATTTAATACATAAAATTTTTTTCAACTTCTAATGCATA GGTGGTTGTACAGTGTAATTTTTGACAACATTCTGTTTTGATCAGCATTA TAATTTTTAGAGACGTCCATAAAGGACACAATTAACTGTCTTTTTAAATG TCAGATTGTTTATAAAATTCCATTAAGTACACAATTATTATGCTGATAAA TAAAAATGAAAACATGAAAATTTCAGAGTCTTTAAGTTAGTTATATCTAC TGACTTTTTAGTTGTGAGAAATTAAAACTAAAATATTTAAAGTATTTCCT TGTGCAATCATACATTCCACTAACAATTCCAACTGCGACCCACAGATTAT TAGAGCTATGCTACTGCAACACATTAGATCTCTGAAACGATCCAGGGTAC ACTTCTAAACATGAGTGAAAATGGTGGCATACCAAAGTATGATTTTAGTT TCTTGGTCCCTCTGCATGAAATGTGAACTTTAGGGATGCTGAGATTACAT GTTAAATTTACTTTTAAAAACCAGATACACAGTTGATGGATGTCAAATGA TAAACGTACCTTTAACGATGATACAGTCTTTTAGGCTTTAGTCGTGCATG TTTGCTTTTTTCTTTAACCTGATTCAAAGAGTTGTAATGTGTACTTTTGG TTGATAAACAAAGCTGAACGTTATTTTTGGTATAAATTCATTTTCTGTCT CATTGGCCTGAGAGCTCCTCAAGTCTTGTGTGGGCCTTGATTTTATCCTA TAACATGTGGGGATGTGAGATTACTTAGGGCAATTATTTTTTCCTATACA TTTCTGATGTTTCTCCTAGTTGTCACAAGCTGACTCTGAAGACATTGTTG AGTTAGGGGAGAACTATGTCATTGTAATTAAAGCAGTTCTTAATTTATAT GCAATAAAAGTTTTTTAAGCTTATCTTCCTAAAACATATAGACACCCAAA ACACACCCAATATACTGTCATGGCATATTGAAATGTAAAAGTGTTGGACA TATAGTTTACTAACATCAGAAAGTTAATATCCCTAAAAAATCTTGTTCGT TGATAAATCATCTTTTTTGAAGAACTGTGTAATAGAGATTGCAGAGTCAA TCAAACTAAGTAATACTAGAAAATAAAAATTTACAAAGAAGTGAGAGATG ATAGGTAATTAAAGTTTTCTGAATGAACAGCAAGTATAGGACACACTGTG TTTCACGGGAGAAGAGGATGTAACTGCTTTGTGAAGAAATAACTCTACGA GTTAGTCAAATTTCTATTTTTCTGCATTCTAACGAATGATATAATGTTAA TTTTCCGTTTTTTTAGATTTCATTTCTAACGGATTGACTATAGAAGTAGT GATTGTAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACCGCAGA TTCGTGAATGAAAGTAGATTTATATATGTTTTTAAAGTTTATAGTAGAGA AATGTTCTCATGAATGTATCTGTGATTAACCTTTTATAGCTCAGATGTTC CCATCAGAATCCAAACAAAAGGATGATGAAGAAAATTCTTGGGATTTTGA GGTACTGTGTATTATTAATTTTCTTTAATACTAGTATTGCATGATACAAA AACATAAAAGCAGAGGCTTAGACTTTATTTTCTCACCTCTGCATATGTCA CTCCCAAATTATTTTTGATATTTTTCAGAATACGCTTAATAGAGGATCTA TGTGCTAAGTAGATGACTGCTTCGTAGTGAAATTCTGCTAATTTTCAGGC TTAATTTAAGAAGCCGGTGTGGTATAGTGTAAAAAATAAGGCTTAGAAGT CACTAGAAATTCACATGGGATCTGAAGCAAGTTTGTCTAAAAGCAAAAGA ATTACACTGAGTCCAGCTGTGGGCAAATTTATGATTCTGTGGTGTATCTA GATGTGCAAAAGTTCTAACTGGATTCGTAGAGAGACAGTTTAAACTGCAG TATTGTAAAAGTTGGGACCTGAAAAGTTAATGCCTGGGACTTGAATGTAT TGACATTTCTGTATTGTTCAGTATAGATCTGAGGGAACATTTCAGGAGAA AGAGGAGCATGAGGACTAGGAAACCTTGTGGGACTACAGTAACAAGAGTA TTGGTTGAGTAATCTTTTGAAAAATATAAATTATTTTCACAAGTAGAACT CCTCGAGTCCCTTTGTGGCAGGCAGTCAAGCTGCAGCAGCATGAGTGTGA AATAATAGTGATGTATTTTAAGGTCACAACTGTGGAAAGACATAGAAAAT ATCTGACCTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAAGAGCAAAGG GTGGAAGTCAGTAGACAAGTAGATTTTATCTGATTTGTCGTCAGACAAAA AGACTTTAATATTTGTTGGCTTTCATTTAGACATGACATAATTTCTTTTC TTACTGCATTTACATTCTCTTCAAGCACTTTTTCTATCAGCATAAATTTT GTCAAAAACATGTTGCTTGTTTTAAGCCCCTGTTTACCAAAATAAAGCAA CTTTTTAAACATTCCGTGCATGCATTATATGACAGACTCTAAAAGTTCTC TTCACGGCATGCATCATTTTTAACACTAAACAATCTATGATCATGAATAT TTTAAATGTTTAATGCAGTACGTGTTATGGCTAGTAGCAAGTGTATTGTA TTTTGTTTGAAATGGCGTATTTACTTTTAATGAGGACTACAACACAAGTT AGATATTTTTAAGAGAGTTACTTTCTGAAATATGCACGAGTGAATTCTTT CGTGAGTGTGATTTGTTTTTCCTGCTCAGTAACCAAGTTAATAGCCTCAT GAACGTAAAGGTAAGTTGATGTGGAGAGTGTTATGTGAGGTTTTCTATCA GAATGTTTTGGGTTTCAACACATGTCTGCTCTTAAGTCGAATTCCTTATA AAGTAGGAAACTGTGTTTTTAGAAAAGATTTTAATTAGGAACTTTTGATA CTCTTCATTATTGGGATTTCTCCATTGAAATTATTTATTGATATTACTTT TAACAGAGTTTCCTTGAGGCTCTCTTACAGAATGATGG	T T	exon_loss_variant exon_loss_variant	HIGH	HG03139.hp1 HG03927.hp1 NA18951.hp2 others(1): Show HG03139.hp1 HG03927.hp1 NA18951.hp2 NA18955.hp2	a0013 a0037 a0013 a0037	a0013c0023 a0013c0047 a0013c0048 others(1): Show a0013c0023 a0013c0047 a0013c0048 a0037c0052	a0013c0023t0001 a0013c0047t0001 a0013c0048t0001 others(1): Show a0013c0023t0001 a0013c0047t0001 a0013c0048t0001 a0037c0052t0001	a0013c0023t0001g0132 a0013c0047t0001g0253 a0013c0048t0001g0098 others(1): Show a0013c0023t0001g0132 a0013c0047t0001g0253 a0013c0048t0001g0098 a0037c0052t0001g0081	4	193	0.0207	-10887	c.228 others(17): Show c.2284+736_2641+735del		ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	25/44				INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0007 a0014 others(3): Show a0002 a0007 a0014 a0023 a0024 a0025	a0002c0004 a0002c0005 a0002c0007 others(13): Show a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0012 a0002c0013 a0002c0019 a0002c0020 a0002c0025 a0007c0031 a0007c0032 a0007c0035 a0014c0018 a0023c0034 a0024c0030 a0025c0033	a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 others(13): Show a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0002c0012t0001 a0002c0013t0001 a0002c0019t0001 a0002c0020t0001 a0002c0025t0001 a0007c0031t0001 a0007c0032t0001 a0007c0035t0001 a0014c0018t0002 a0023c0034t0001 a0024c0030t0001 a0025c0033t0001	a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0179 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0199 a0002c0004t0001g0211 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0231 a0002c0004t0001g0233 a0002c0004t0001g0234 a0002c0004t0001g0245 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0005t0001g0181 a0002c0005t0001g0185 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0200 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0217 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0235 a0002c0005t0001g0239 a0002c0005t0001g0240 a0002c0005t0001g0241 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0265 a0002c0005t0001g0268 a0002c0007t0001g0006 a0002c0007t0001g0201 a0002c0007t0001g0202 a0002c0007t0001g0203 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0208 a0002c0007t0001g0209 a0002c0007t0001g0210 a0002c0007t0001g0227 a0002c0007t0001g0255 a0002c0007t0001g0256 a0002c0007t0001g0257 a0002c0007t0001g0258 a0002c0011t0001g0005 a0002c0011t0001g0204 a0002c0011t0001g0205 a0002c0012t0001g0180 a0002c0012t0001g0194 a0002c0012t0001g0195 a0002c0012t0001g0228 a0002c0013t0001g0191 a0002c0013t0001g0192 a0002c0013t0001g0262 a0002c0019t0001g0189 a0002c0019t0001g0249 a0002c0020t0001g0218 a0002c0020t0001g0238 a0002c0025t0001g0008 a0007c0031t0001g0237 a0007c0032t0001g0236 a0007c0035t0001g0193 a0014c0018t0002g0232 a0014c0018t0002g0264 a0023c0034t0001g0266 a0024c0030t0001g0216 a0025c0033t0001g0172	101	296	0.3412	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88					chr2	TogoVar
AP5B1_chr11_65768898_65785976	65779948	ACAGGGCC others(9): Show ACAGGGCCTTCCTGCCC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0027 a0011c0015t0027	a0011c0015t0027g0030 a0011c0015t0027g0030	1	422	0.0024	-16	c.529 others(23): Show c.529_544delGGGCAGGAAGGCCCTG	p.Gly others(5): Show p.Gly177fs	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	929/6980	529/2637	177/878		chr11	TogoVar
APOBEC3A_chr22_38952609_38968184	38962275	GGCCTTGC others(5902): Show GGCCTTGCCTTCCCCTCTGCTCAGAGCCTCCTCTGGGTTCCCTGCTCCCC ACAGGGCGCCCAGCTCCGTCCCTCCCTTTCCTTCTCACAGCCTCCTTCTC TTTCCCACCTCCCGCATCCCTCCCTCCTCTCCCGTCATTGTCACTGTCCC CAGGCCACCTCCCTGTGCCCTCTTTCCACTCTCTCACCTCCTGCTCCATT CAACCCCCCTGCTCTTCCAGAATCAGGGAAACTGAAGGATGGGCCTCAGT CTCTAAGGAAGGCAGAGACCTGGGTTGAGCAGCAGAATAAAAGATCTTCT TCCAAGAAATGCAAACAGACCGTTCACCACCATCTCCAGCTGCTCACAGA CGCCAGCAAAGCAGTATGCTCCCGATCAAGTAGATTTTTAAAAAATCAGA GTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCC AAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGC GTGAACCCGGGAGGCAGAGCTTGCGGTGAGCCGAGATTGCGCTACTGCAC TCCAGCCTGGGCGACAGTACCAGACTCCATCTCAAAAAAAAAAAAACCAG ACTGAATTAATTTTAACTGAAAATTTCTCTTATGTTCCAAGTACACAATA GTAAGATTATGCTCAATATTCTCAGAATAATTTTCAATGTATTAATGAAA TGAAATGATAATTTGGCTTCATATCTAGACTAACACAAAATTAAGAATCT TCCATAATTGCTTTTGCTCAGTAACTGTGTCATGAATTGCAAGAGTTTCC ACAAACACTAGCAAATGTGTAGATGTCTTTCCTTGTGTAGCGGACCTGTA GCGGGGAAAGGTCACACAACATCCCTCTGGATCCAGAAAACTCAGCTAAA CCTCACAGGAGAGGAACCTAAATGCAGACCCCACCCTCACTCACAGAGCC CCGCCCACCCTCACTTACAGAGCCCCGGGCGCTGATTGGAAGGGACAGGC CCAGCAGTAAGAGGACAGCCAGCAGCCAGTCTCCCTGTTGGAAAGGAACC ACAAACGTGCAGTCAGGGGCCCTCGGGAGCCGCCCTCTGTCCACCCCTTC CTGATTCCACCCCCCTAGAGAGGGAGCCCAGGGGAGGCCATGGCTGAGAC CCAGGACAGGCCCAGTCGGGGGAAGGAGCCCAGGGAGGGGGCAGGTGTCT AGGCTGGGCCCAAAGAGAGGGCTGGGGAGAGGAGCAGCCCAGGAGGCAGA GCCCAGCCACAGAGGGGAGGGGAGCTGAGTCCCGGGGACAGGAGGCTCCA GAGGCAGAGACGGAGCCCAGGGCTAGGGCGGCAGGTGTCAGGGCTGTGGC TTCAGCTTGGCGTCTGTCCTGGGCCTTCTGCGCTGGTTCCCAACTCTGGG ATGTGTGACTTATATGCCTGATTACAGCGGCGGCTCCCACCTCACGATTT CTGGAAAGTCCTCAGAAGCCGCATATAAGACCAAGAACGGGCCTCACATG CAGCTGCTCCTGGGCAGAAACGACTCACTGTTTCCCTGGCCTAGACACAC ACAACACACAAACACACACAAGACACACATACACACAACACACACAACAC ATACACACACAACACATGCACAAAACACATACACACACACACCCACACAC AGTGACAGAGACTTCACACAAAGAAACCTCCTCCAGGTGCCCCAGAGCAC TCCGGGGCGCACCCCAGCCCCGCCCTGAGCAGAGGACTTTGGCATTTCCC ACGCAGGGGCGGGTGCGGGAGGGACCGGCTTGTCAAAGCTGCCCTTTGCT TGTGTCTCTGGGTTTGATAACAGTCCTAACTCCACTTGTTGGAAGCAAGT GATGAAAAACGTGCAGTCATTCTGGGCAAAGGGACCAGTGTAGGGGAGGC ATGAGAGGCTCACCTGGTGAAAGAACACCAGAGTTAGTCATGTCACAGGG CAGCTCCCAGAGAGACCTGCCCCTCGTCCCCCAGAACCCCACCTTCCAAG GGCCCAGGCTCCTGTCCCCCGGGCCTCAACTCACAGCTTTGCCCATGACC TGGGAGCCCTGGGGGTCCTGGTGAGGTGACTGGACACAGCCTCATGACAC TGCTGGGACCTGGGCTGGGAACTGAGAGCCTGTGGTCCCTCTGGGCTGTA GGGGTCGGGGCCCCACAGTGGCGGCAGAGCCGGGACCTCGTACACAGCAG CATGGACTCCAGACCCAAGTGGAACCTCCATTCTGGTCTCAGGGTGACCC GGGCTGCACAGCCCAGCACCTGCCCAGGGTCCCTCTGCCCTGCTCTGTCC CTCAATAGTCTGGACCCCTGCTGGGTACTTGCCTTGTCCCCCCCTTACAG GGGACCAGGGTGAATCTTGGGCGAAGCCTGCACCTGTGAAGGAGGCCATT CTCCTTGCTCCCATCCCTGCCGCCCACATGGGGAACCAGCTCCTTCTTGT TCCTGGGGACCTTTCCTGGGCTCTGGTGGAAACTCCAGCGGAATGTGGGG TCTTTCATTTTCCCTCAGTGTTGCAGAGGCCGAAATGGAGAGGGGCTGTC ACTCCCCAGGAAAGGGCACAATCTCCTTCCTTCCCTCCAGCTGGCCCAGG GACGGTGCACACTCTTATCCTAGTCACCCTGAGGACTGCAGCCCTGGTAT GAGCCCAGAGTCACCCCCAGGTTTTATGGATGCCTTACACACTCTGCCCT GGCCTGACCTCAAGAGGACCAGGAAGTGCCCAGTTGTCACTGGGTTTTGC TGCCCTGAGAGAGTCAGGCTCCAGTGCACAGAGGAACGTGTGTGTGCAGG GTGGTGGCACTGTCAGGGGGCACAGCAATCCCAGGGGAGCGTGCCCTGCT GTTCCAGGTTGTGGCACTTATGGAAGATCCTGGGTCCAGAGGCTGGAGTA AAATCGTTCCCACTCACATCTAACCTACCCTGGGCTGGCTCGTGGGAGTC AAAGGCCCAGACAGTGGCTGGCCCTGTCCATCCTTGGCCAGGGAGGGTCC TGGCCTCCCTCTGCGCTGGGGGGGGAGCCCCACTCACCCTCTCTTCTTTC CTCTCTGGAGGCGCTGCCCTGCTCTCCGGCTTGTACAATTTGCTACTGAG AATTTAACTCCAGACAGTATTTTTGCCCCAATTTGCTGTAAACATTTGAG CCTGAGGCCATGTTTGTCATCAGATGAAGTGGTTTACAGATGTGAAATTG TTGTTTGTAGTCTAACATTTCTGGTTTGTAAACCCATCCGTGATGGGCTC CCAGCCCAACCCGCTGCAGATGAGGCCGCTGAGTTTCTGTTGAGAATGAA GACCGGGTTCCCAATTAGGGCAACTCGTCCCTCACACTGCTCCTTACACC CCCATCTTCCAGATCCCAGCCAAGCCCCCTCCACCCAATACACCCCAGCG TCCTTGCATCCAATTAACATCTCAGAGTGGCCACCTTTGCAGAGACCTGG CTGGGGAGGGAGGTCACAGTAAAGACACAGCCTGGCTCCTGTGGGCCCCC TGGGGACAGCAGCCCTGCACACACACTCTGGGCCTTTCTCTCCCCCTTTC AGCCTTGTCCTTGGATATCCCCCAGGTCACTCTTGCTCAGGACCAAGCAG ATTGACTGGGGACAGCAAATGTAACCATAAAAGGGGATTCTACAAGGACT CCCCTCAGGGAGCAGGTGCCAGCGGTGGGGACTGGGGAGTAGATAAGAGG TGGCTGGGAGCTAGGATAAGAGCGACAGCCCAGAGTTCCTGGATCCTGGC TGAGGCTGGGTCCCGGGCCCCAGGACAGTCCTGCAGACCCCAGAATCAGA GACTGAGGAGTCAAAGACAGGCAGGAGACGCCCCTGGGGATGCCCAGCAA AGCACTGTCCCCTGCGTGCAGCTTTCCCGGGTCTCCCCACAGAAAGCTCA GTGAGGGCTGTCGTGGCCACTGGCGACCCAGGCACATTTGCTCCGGTAAG AGGCCATTGCTCTGGGAAGCAGCAGCCACACAGGAAGAGTTGGGGGAGGG CAAGGGCTCTGCCCTCCGAGGGTCCTGCAGGGCACAGGGTCTGCATAGCA GGAACCCCAGACTCTTTGTGCCCCACCCCCACTCTAACTCAGAGCTCTGT GCTAAGGAGAGCCTTATCATGCCCTCGGTGGATTCAGAAGCACTTTGTAG GGCTGAGTGACGAAACATTTGGGGCTGGGAGTAGAGCTGGCTGGGTCAGG ACGACACCCCCTCCTGGAAGGGCAGGCCTGTGGGGGGCACAAGCAGGGAC AACAGCCCATTCGTGTCTGCTGGTACAGGTGCAGTCTCTGTGCAGGTGGG CAGTGGGTACTGCAGGGCACCATGCTGTGTGTGCCTCGAGTGTGAACTGG GAAAGGTGGTCTCTGGTCAGACTCACACAACACACCAAGATGAGCTCACA CCGGAACCACCCGAGACTCAATTGGGAGTTGACAGCCCCCAGGGGATATC CTCTTGACTAGAGAAGTCCAAGGTCTGGAGACAGAATGGGAGGTGGCATC CTCATGGCAGAGAACAGGGCCTCCTCTGGTCTGCCCATGAGGAGTGGTGC CCACCAAGATGGCAGGGACACTGTGCTGAGGAGGGTGGATCACTCCCACC TTCTTCTGAGGTTTCCACCTCAGCGAGCACCGGCCAGGCTGGGAGGGCGA GGAGCTGTGCTTGGTCCGGGTGGCCAGGGTGGGACTGTCCCCAGGATGTG GACTCTCTTGCATGAGACAGCTGGCCAAGGATGGGGGGTCTAAGAGGAGC CAAGACAGGGGAATCAGCAGGACAGGGGGCAGCCCCCAGGCCCACAGGGC CAGTGCATTCTTCGGGCAGCTGTGCTGGGTGCAGTAGGTGGACCTGGGAA AGGATGGCGCCAGACCTGCCGTTGGGACTCAGGGGCTCACTTGGGGCAGG AGCACAGCTTCCCACACATTTCTGCAGGGCTGGAGGTGGGAGAAAGGGCA CAGGGTGAGCCTTCTGAGGGCATTTGTGTCCCTGCATCACTCTGCTCACT GGGAGGGCCTGGGCAAGTCTAGGTACCTTTCAGAGCCTCTCGTATCTCCT CTAGAGGAGTAATGGGGATGAAAGCACCCCTTGCTCTAGTTTGCCGTAAT TAGATGGACTGACACAAACAAGGGCTCAGCATGTCTGTCTCCTTCCCTTC CCAGGGCCTGGGATCAAGACCCAGGACACACTCTGCTCTCTGCACTGCAC GCCCTGCAGGGCCCTGGATGCAGCAGGCATGCCCTGTGCTGGCTATAGTA GGGGACGTAGGGTCGGCTGCTCTGGAGCCTACTCTCTGGGGGCGCTGAGT CTTATTCGAGACCTTTCTCCAGGGTGTGGATACCTGTCCTCCTGCCTGTC CCCTGGCCTCCTGCCTTCCTGGTCCCTGCTGCCCAAAGTGACTGAAGTGT GGCCAAGGCTCGCTTTCCTCATTGTCACTCCACAGCATCCCTGTAGGGCT ATTGTCAGAGCAGGGAAATCAAAACCAATGCTTGTGGGAAGACACAGCAG AGAACTTCCTTATTCTGTGACACTGATGTGGGTGGCACAGGGGACCTGAG TTCAGGAAGGGGTGGGGCAGGTCATTGCTGACCCAGCAGCTTGCGGTCAC TCTGAAGTGATGTAAGCCTCCTGTGTCCTAAGAGCAACCAGAGGAGGACC ACAGGAGCACATGCTGTGACCGTCACAGAAGCAGGAGGACCCTGACCTAG GAACCGTGAAGGGACTAGGACATGATGGCTAATGGCTAACACGGTGCTGA CAGCCAGTCCTGCAGCCTCTCGAAGCCTCTGCTCCTGAGCCTCCTCCTCG GGTTCCTTGG	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01255.hp2 HG01361.hp1 HG01978.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp2 NA18979.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0005c0010 a0002c0004 a0005c0010	a0002c0004t0002 a0005c0010t0002 a0002c0004t0002 a0005c0010t0002	a0002c0004t0002g0004 a0002c0004t0002g0047 a0002c0004t0002g0050 others(2): Show a0002c0004t0002g0004 a0002c0004t0002g0047 a0002c0004t0002g0050 a0002c0004t0002g0051 a0005c0010t0002g0004	37	357	0.1036	-5909	c.585 others(12): Show c.585+63_*5675del		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding	5/5					chr22	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0244 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0273 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0007t0001g0023 a0003c0007t0001g0158 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0235 a0003c0007t0001g0259	61	414	0.1473	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMS2_chr10_122449653_122462352	122454839	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02602.hp1 HG02970.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007	a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 a0003c0003t0002g0012 a0003c0003t0004g0003 a0003c0003t0005g0003 a0003c0003t0007g0003	61	422	0.1446	0	c.112 others(3): Show c.112C>T	p.Arg others(3): Show p.Arg38*	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	1/2	187/818	112/324	38/107		chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.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 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0013 a0018 a0022	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0008c0013 a0010c0014 a0011c0026 a0013c0019 a0018c0033 a0022c0018	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0008c0013t0012 a0010c0014t0001 a0011c0026t0001 a0013c0019t0001 a0018c0033t0012 a0022c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0009g0236 a0001c0001t0009g0255 a0001c0001t0009g0261 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 a0001c0001t0013g0235 a0001c0001t0013g0275 a0001c0001t0014g0152 a0001c0001t0014g0274 a0001c0001t0014g0278 a0001c0001t0016g0010 a0001c0001t0017g0176 a0001c0001t0018g0002 a0001c0001t0018g0293 a0001c0001t0019g0244 a0001c0001t0019g0251 a0001c0001t0023g0003 a0001c0001t0025g0267 a0001c0001t0026g0189 a0001c0001t0027g0256 a0001c0001t0028g0289 a0001c0001t0034g0153 a0001c0008t0016g0116 a0001c0008t0016g0117 a0001c0010t0031g0032 a0001c0020t0001g0272 a0001c0024t0001g0238 a0001c0025t0001g0273 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0297 a0003c0003t0001g0298 a0004c0004t0004g0001 a0004c0004t0004g0169 a0004c0004t0004g0170 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0181 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0005g0005 a0005c0006t0005g0166 a0005c0006t0005g0167 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0175 a0005c0006t0005g0180 a0005c0006t0030g0168 a0006c0007t0001g0151 a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0161 a0006c0007t0001g0162 a0006c0007t0009g0163 a0008c0013t0012g0118 a0008c0013t0012g0120 a0008c0013t0012g0121 a0010c0014t0001g0214 a0010c0014t0001g0280 a0011c0026t0001g0228 a0013c0019t0001g0208 a0018c0033t0012g0119 a0022c0018t0001g0229	159	299	0.5318	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0020t0001 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0004 a0002c0030t0001 a0002c0031t0001 a0002c0032t0001	a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0356 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0039 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0256 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0001g0366 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0255 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0257 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0011t0007g0251 a0002c0011t0007g0252 a0002c0011t0007g0253 a0002c0011t0007g0254 a0002c0012t0005g0034 a0002c0012t0005g0250 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0020t0001g0032 a0002c0021t0001g0309 a0002c0021t0001g0362 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0029t0004g0355 a0002c0030t0001g0335 a0002c0031t0001g0364 a0002c0032t0001g0337	151	438	0.3447	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
B3GNT3_chr19_17790138_17818576	17811688	C C	CTGGCACC others(4): Show CTGGCACCTCTG	frameshift_variant frameshift_variant	HIGH	NA18955.hp2 NA18955.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0151 a0008c0010t0006g0151	1	404	0.0025	11	c.685 others(18): Show c.685_686insTGGCACCTCTG	p.Pro others(5): Show p.Pro229fs	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	3/3	805/2692	686/1119	229/372		chr19	TogoVar
BRCA1_chr17_43039295_43130364	43124023	GGACACTC others(24): Show GGACACTCTAAGATTTTCTGCATAGCATTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0002 a0018c0028t0002	a0018c0028t0002g0100 a0018c0028t0002g0100	1	274	0.0036	-31	c.43_ others(36): Show c.43_73delATTAATGCTATGCAGAAAATCTTAGAGTGTC	p.Ile others(4): Show p.Ile15fs	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	2/23	186/7088	43/5592	15/1863		chr17	TogoVar
BTNL2_chr6_32388339_32412181	32394744	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show HG00438.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 others(7): Show a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0170 a0004c0003t0003g0171 a0004c0003t0003g0172 a0004c0003t0003g0173 a0004c0003t0003g0174	45	451	0.0998	0	c.136 others(4): Show c.1360G>T	p.Glu others(4): Show p.Glu454*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	6/8	1418/1564	1360/1449	454/482		chr6	TogoVar
C14orf180_chr14_104574764_104595515	104587748	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG02056.hp1 HG02074.hp1 others(5): Show HG00408.hp1 HG02056.hp1 HG02074.hp1 HG02165.hp2 NA18955.hp1 NA18977.hp2 NA19009.hp2 NA19012.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0008 a0001c0005t0004g0008	8	432	0.0185	0	c.112 others(5): Show c.112-1G>A		C14orf180	ENSG00000184601.11	transcript	ENST00000557649.6	protein_coding	2/4					chr14	TogoVar
C17orf107_chr17_4894536_4907934	4900042	AACCGAAG AACCGAAG	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show HG00408.hp1 HG00558.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18972.hp2 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19065.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0001 a0003c0003t0008g0001 a0003c0003t0001g0001 a0003c0003t0008g0001	14	440	0.0318	-7	c.175 others(14): Show c.175_181delCCGAAGA	p.Pro others(4): Show p.Pro59fs	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	2/3	402/3201	175/573	59/190	INFO_REALIGN_3_PRIME	chr17	TogoVar
CAPN15_chr16_522712_559636	552143	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01928.hp1 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02970.hp2 HG03098.hp2 HG03688.hp1 NA18954.hp1 NA18955.hp1 NA18966.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19077.hp2 NA19091.hp2	a0002 a0005 a0012 others(2): Show a0002 a0005 a0012 a0017 a0021	a0002c0012 a0002c0014 a0002c0015 others(12): Show a0002c0012 a0002c0014 a0002c0015 a0002c0016 a0002c0047 a0002c0048 a0002c0049 a0002c0059 a0002c0069 a0005c0034 a0005c0036 a0005c0038 a0012c0076 a0017c0079 a0021c0030	a0002c0012t0001 a0002c0012t0002 a0002c0014t0001 others(18): Show a0002c0012t0001 a0002c0012t0002 a0002c0014t0001 a0002c0014t0002 a0002c0015t0001 a0002c0015t0002 a0002c0015t0004 a0002c0016t0001 a0002c0016t0002 a0002c0016t0003 a0002c0047t0001 a0002c0048t0001 a0002c0049t0002 a0002c0059t0002 a0002c0069t0001 a0005c0034t0001 a0005c0036t0001 a0005c0038t0001 a0012c0076t0003 a0017c0079t0002 a0021c0030t0002	a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 others(21): Show a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 a0002c0012t0002g0266 a0002c0014t0001g0319 a0002c0014t0001g0329 a0002c0014t0002g0098 a0002c0015t0001g0020 a0002c0015t0002g0154 a0002c0015t0004g0252 a0002c0016t0001g0201 a0002c0016t0002g0223 a0002c0016t0003g0118 a0002c0047t0001g0371 a0002c0048t0001g0226 a0002c0049t0002g0384 a0002c0059t0002g0065 a0002c0069t0001g0204 a0005c0034t0001g0398 a0005c0036t0001g0391 a0005c0038t0001g0035 a0012c0076t0003g0287 a0017c0079t0002g0097 a0021c0030t0002g0056	24	408	0.0588	1	c.244 others(5): Show c.2443dupG	p.Val others(5): Show p.Val815fs	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	10/14	2951/4888	2444/3261	815/1086	INFO_REALIGN_3_PRIME	chr16	TogoVar
CBX6_chr22_38856422_38877216	38866233	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02523.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG02523.hp1 NA18955.hp2 NA18965.hp1 NA18967.hp1 NA18981.hp2 NA18985.hp2 NA19068.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0007 a0003c0006 a0004c0005 a0002c0007 a0003c0006 a0004c0005	a0002c0007t0022 a0003c0006t0012 a0003c0006t0019 others(5): Show a0002c0007t0022 a0003c0006t0012 a0003c0006t0019 a0004c0005t0001 a0004c0005t0003 a0004c0005t0004 a0004c0005t0019 a0004c0005t0090	a0002c0007t0022g0071 a0003c0006t0012g0127 a0003c0006t0019g0128 others(6): Show a0002c0007t0022g0071 a0003c0006t0012g0127 a0003c0006t0019g0128 a0004c0005t0001g0079 a0004c0005t0003g0069 a0004c0005t0003g0078 a0004c0005t0004g0143 a0004c0005t0019g0105 a0004c0005t0090g0142	9	404	0.0223	1	c.121 others(5): Show c.1214dupG	p.Gly others(5): Show p.Gly406fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	1240/6052	1214/1239	405/412		chr22	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0014t0001 a0006c0008t0001 a0007c0009t0001 a0008c0015t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0206 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0190 a0002c0002t0003g0192 a0002c0002t0003g0195 a0002c0002t0004g0187 a0003c0003t0001g0003 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0004c0007t0002g0121 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0005c0014t0001g0135 a0006c0008t0001g0165 a0007c0009t0001g0164 a0008c0015t0001g0193	79	217	0.3641	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	260	360	0.7222	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5					chr14	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0136 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 a0004c0004t0001g0031 a0004c0004t0001g0167	118	339	0.3481	2	c.647 others(13): Show c.647-4_647-3dupTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr20	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0065 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0003t0001g0002 a0001c0003t0001g0040 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0002g0012 a0001c0003t0002g0037 a0001c0003t0002g0066 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0033 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0005t0001g0003 a0001c0005t0001g0015 a0001c0005t0001g0023 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0062 a0001c0006t0001g0018 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0007t0002g0034 a0001c0007t0002g0070 a0001c0009t0002g0073 a0001c0010t0002g0075	211	404	0.5223	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CEP89_chr19_32870925_32976958	32879164	A A	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18944.hp2 NA18949.hp2 NA18955.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19083.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0004c0007 a0009c0012 a0004c0005 a0004c0007 a0009c0012	a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 others(7): Show a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 a0004c0005t0022 a0004c0005t0024 a0004c0005t0025 a0004c0007t0004 a0004c0007t0023 a0009c0012t0004 a0009c0012t0021	a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 others(46): Show a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 a0004c0005t0005g0102 a0004c0005t0005g0103 a0004c0005t0005g0104 a0004c0005t0005g0105 a0004c0005t0005g0107 a0004c0005t0005g0109 a0004c0005t0005g0111 a0004c0005t0005g0113 a0004c0005t0005g0114 a0004c0005t0005g0117 a0004c0005t0005g0118 a0004c0005t0005g0119 a0004c0005t0005g0121 a0004c0005t0005g0122 a0004c0005t0005g0166 a0004c0005t0005g0268 a0004c0005t0005g0269 a0004c0005t0014g0115 a0004c0005t0014g0116 a0004c0005t0015g0108 a0004c0005t0015g0123 a0004c0005t0022g0081 a0004c0005t0024g0112 a0004c0005t0025g0110 a0004c0007t0004g0080 a0004c0007t0004g0275 a0004c0007t0004g0276 a0004c0007t0004g0277 a0004c0007t0004g0279 a0004c0007t0004g0280 a0004c0007t0004g0281 a0004c0007t0004g0282 a0004c0007t0004g0283 a0004c0007t0004g0284 a0004c0007t0004g0285 a0004c0007t0004g0286 a0004c0007t0004g0287 a0004c0007t0004g0288 a0004c0007t0004g0289 a0004c0007t0004g0290 a0004c0007t0004g0291 a0004c0007t0004g0292 a0004c0007t0004g0294 a0004c0007t0023g0295 a0009c0012t0004g0065 a0009c0012t0021g0017	49	384	0.1276	0	c.235 others(4): Show c.2350T>C	p.Ter others(11): Show p.Ter784Glnext*?	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	19/19	2434/5673	2350/2352	784/783		chr19	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0014 others(5): Show a0001 a0009 a0014 a0015 a0017 a0020 a0021 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0014c0015 a0015c0024 a0017c0027 a0020c0018 a0021c0028 a0023c0017	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0014c0015t0001 a0015c0024t0001 a0017c0027t0001 a0020c0018t0001 a0021c0028t0001 a0023c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0014c0015t0001g0046 a0015c0024t0001g0107 a0017c0027t0001g0153 a0020c0018t0001g0096 a0021c0028t0001g0102 a0023c0017t0001g0136	175	482	0.3631	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.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 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTLN_chr9_17130040_17508923	17457514	TA TA	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026	a0001c0001 a0001c0004 a0001c0014 others(31): Show a0001c0001 a0001c0004 a0001c0014 a0001c0016 a0001c0023 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0047 a0001c0055 a0002c0006 a0002c0008 a0002c0013 a0003c0002 a0003c0052 a0004c0003 a0004c0020 a0005c0005 a0006c0007 a0006c0043 a0008c0010 a0008c0053 a0009c0009 a0010c0012 a0015c0034 a0016c0038 a0017c0032 a0018c0042 a0019c0045 a0020c0040 a0024c0051 a0025c0054 a0026c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0014t0001 a0001c0016t0001 a0001c0023t0003 a0001c0023t0012 a0001c0027t0004 a0001c0028t0004 a0001c0029t0001 a0001c0030t0002 a0001c0047t0001 a0001c0055t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0009 a0002c0013t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0052t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0009 a0004c0020t0005 a0005c0005t0001 a0006c0007t0002 a0006c0007t0006 a0006c0007t0014 a0006c0007t0015 a0006c0043t0002 a0008c0010t0002 a0008c0010t0004 a0008c0053t0002 a0009c0009t0002 a0009c0009t0008 a0010c0012t0002 a0010c0012t0003 a0015c0034t0001 a0016c0038t0001 a0017c0032t0001 a0018c0042t0002 a0019c0045t0002 a0020c0040t0002 a0024c0051t0013 a0025c0054t0002 a0026c0024t0003	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0204 a0001c0001t0007g0175 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0023 a0001c0004t0002g0002 a0001c0004t0002g0017 a0001c0004t0003g0003 a0001c0014t0001g0038 a0001c0016t0001g0128 a0001c0016t0001g0129 a0001c0016t0001g0177 a0001c0023t0003g0166 a0001c0023t0012g0168 a0001c0027t0004g0161 a0001c0028t0004g0028 a0001c0029t0001g0202 a0001c0030t0002g0048 a0001c0047t0001g0123 a0001c0055t0001g0021 a0002c0006t0001g0076 a0002c0008t0001g0026 a0002c0008t0001g0027 a0002c0008t0001g0035 a0002c0008t0001g0037 a0002c0008t0001g0039 a0002c0008t0001g0040 a0002c0008t0009g0034 a0002c0013t0001g0045 a0003c0002t0001g0051 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0071 a0003c0002t0001g0211 a0003c0002t0002g0065 a0003c0002t0002g0074 a0003c0002t0016g0070 a0003c0052t0002g0167 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0146 a0004c0003t0001g0149 a0004c0003t0001g0152 a0004c0003t0001g0159 a0004c0003t0001g0192 a0004c0003t0001g0193 a0004c0003t0001g0212 a0004c0003t0001g0217 a0004c0003t0002g0148 a0004c0003t0002g0187 a0004c0003t0003g0136 a0004c0003t0004g0180 a0004c0003t0009g0134 a0004c0020t0005g0145 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0006c0007t0002g0077 a0006c0007t0002g0078 a0006c0007t0002g0079 a0006c0007t0002g0085 a0006c0007t0002g0086 a0006c0007t0002g0199 a0006c0007t0006g0080 a0006c0007t0014g0087 a0006c0007t0015g0083 a0006c0043t0002g0081 a0008c0010t0002g0001 a0008c0010t0002g0049 a0008c0010t0002g0206 a0008c0010t0004g0207 a0008c0053t0002g0004 a0009c0009t0002g0154 a0009c0009t0002g0157 a0009c0009t0002g0208 a0009c0009t0008g0153 a0010c0012t0002g0018 a0010c0012t0002g0019 a0010c0012t0002g0020 a0010c0012t0003g0025 a0015c0034t0001g0088 a0016c0038t0001g0151 a0017c0032t0001g0066 a0018c0042t0002g0084 a0019c0045t0002g0046 a0020c0040t0002g0147 a0024c0051t0013g0047 a0025c0054t0002g0016 a0026c0024t0003g0024	137	215	0.6372	-1	c.311 others(7): Show c.3115-2delA		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25				INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0002c0003 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0008c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0008c0042t0002	a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0301 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0005g0289 a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 a0001c0002t0009g0262 a0001c0002t0009g0330 a0001c0002t0009g0334 a0001c0002t0010g0125 a0001c0002t0010g0291 a0001c0002t0010g0292 a0001c0002t0010g0321 a0001c0002t0012g0285 a0001c0002t0013g0288 a0001c0005t0001g0154 a0001c0013t0002g0001 a0001c0013t0002g0272 a0001c0014t0002g0007 a0001c0014t0002g0319 a0001c0019t0002g0020 a0001c0025t0002g0279 a0001c0031t0002g0296 a0002c0003t0003g0227 a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 a0003c0004t0002g0311 a0003c0004t0002g0324 a0003c0007t0002g0026 a0003c0017t0002g0307 a0003c0017t0002g0310 a0003c0041t0002g0258 a0008c0042t0002g0284	100	367	0.2725	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0050 a0002c0003 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0011c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0002c0003t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0011c0066t0002	a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0124 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0327 a0001c0002t0008g0019 a0001c0002t0009g0328 a0001c0002t0012g0020 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0004t0001g0155 a0001c0006t0001g0302 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0042t0002g0294 a0001c0043t0002g0284 a0001c0050t0002g0297 a0002c0003t0001g0225 a0003c0010t0001g0309 a0003c0010t0002g0323 a0003c0016t0002g0026 a0003c0063t0001g0047 a0005c0017t0002g0256 a0005c0017t0002g0257 a0005c0017t0002g0311 a0005c0065t0002g0310 a0011c0066t0002g0282	97	359	0.2702	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A5_chr3_130340672_130489846	130471876	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2	a0001 a0004 a0006 others(17): Show a0001 a0004 a0006 a0008 a0010 a0023 a0026 a0028 a0044 a0051 a0052 a0056 a0058 a0062 a0065 a0066 a0068 a0073 a0075 a0086	a0001c0001 a0001c0014 a0001c0025 others(22): Show a0001c0001 a0001c0014 a0001c0025 a0001c0082 a0004c0003 a0006c0005 a0008c0010 a0008c0027 a0010c0009 a0023c0024 a0026c0089 a0026c0090 a0028c0029 a0044c0069 a0051c0049 a0052c0078 a0056c0060 a0058c0084 a0062c0106 a0065c0080 a0066c0105 a0068c0076 a0073c0052 a0075c0061 a0086c0056	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0025t0002 a0001c0082t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0027t0009 a0010c0009t0002 a0023c0024t0002 a0026c0089t0002 a0026c0090t0002 a0028c0029t0001 a0044c0069t0001 a0051c0049t0001 a0052c0078t0002 a0056c0060t0005 a0058c0084t0002 a0062c0106t0003 a0065c0080t0011 a0066c0105t0003 a0068c0076t0001 a0073c0052t0003 a0075c0061t0002 a0086c0056t0001	a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0003g0088 a0001c0014t0002g0183 a0001c0014t0002g0199 a0001c0014t0002g0233 a0001c0014t0002g0247 a0001c0014t0002g0250 a0001c0014t0002g0260 a0001c0025t0002g0227 a0001c0025t0002g0235 a0001c0025t0002g0236 a0001c0082t0002g0246 a0004c0003t0001g0026 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0138 a0004c0003t0001g0203 a0004c0003t0002g0191 a0004c0003t0002g0192 a0004c0003t0002g0194 a0004c0003t0002g0232 a0004c0003t0003g0085 a0006c0005t0001g0025 a0006c0005t0002g0012 a0006c0005t0002g0224 a0006c0005t0002g0225 a0006c0005t0002g0251 a0006c0005t0003g0021 a0006c0005t0003g0043 a0006c0005t0003g0045 a0006c0005t0003g0081 a0008c0010t0001g0106 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0167 a0008c0010t0005g0049 a0008c0027t0009g0162 a0008c0027t0009g0163 a0010c0009t0002g0094 a0010c0009t0002g0095 a0010c0009t0002g0096 a0010c0009t0002g0097 a0010c0009t0002g0100 a0010c0009t0002g0101 a0010c0009t0002g0277 a0010c0009t0002g0278 a0023c0024t0002g0005 a0023c0024t0002g0102 a0026c0089t0002g0198 a0026c0090t0002g0276 a0028c0029t0001g0099 a0028c0029t0001g0104 a0044c0069t0001g0134 a0051c0049t0001g0126 a0052c0078t0002g0272 a0056c0060t0005g0046 a0058c0084t0002g0267 a0062c0106t0003g0074 a0065c0080t0011g0063 a0066c0105t0003g0078 a0068c0076t0001g0270 a0073c0052t0003g0015 a0075c0061t0002g0263 a0086c0056t0001g0113	103	290	0.3552	-1	c.777 others(5): Show c.7772delT	p.Leu others(6): Show p.Leu2591fs	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/41	8110/8969	7772/7845	2591/2614	INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40307478	G G	A A	stop_gained stop_gained	HIGH	HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show HG00423.hp2 HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01346.hp2 HG01928.hp2 HG01943.hp2 HG02027.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03669.hp1 HG04228.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp1 NA19065.hp1 NA19086.hp1 NA19089.hp1 NA20300.hp1	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0013	a0001c0005 a0001c0008 a0001c0028 others(3): Show a0001c0005 a0001c0008 a0001c0028 a0007c0007 a0008c0012 a0013c0029	a0001c0005t0001 a0001c0008t0001 a0001c0028t0001 others(3): Show a0001c0005t0001 a0001c0008t0001 a0001c0028t0001 a0007c0007t0001 a0008c0012t0001 a0013c0029t0001	a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0073 a0001c0005t0001g0074 a0001c0005t0001g0093 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0101 a0001c0005t0001g0103 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0001g0108 a0001c0005t0001g0111 a0001c0005t0001g0114 a0001c0005t0001g0145 a0001c0008t0001g0050 a0001c0008t0001g0126 a0001c0028t0001g0102 a0007c0007t0001g0025 a0008c0012t0001g0063 a0013c0029t0001g0139	41	436	0.0940	0	c.976 others(3): Show c.976C>T	p.Gln others(4): Show p.Gln326*	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	19/32	1065/2852	976/2070	326/689		chr1	TogoVar
CPNE1_chr20_35621044_35669900	35627312	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0011t0001g0077	46	270	0.1704	1	c.120 others(5): Show c.1203dupT	p.Ala others(5): Show p.Ala402fs	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/16	1344/1952	1203/1614	401/537		chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0009 a0008c0010 a0010c0013 a0011c0014 a0012c0018 a0014c0020 a0016c0019 a0017c0021 a0018c0022	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0009t0001 a0007c0009t0002 a0008c0010t0002 a0010c0013t0002 a0011c0014t0001 a0012c0018t0002 a0014c0020t0001 a0016c0019t0001 a0017c0021t0002 a0018c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0002g0375 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0200 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0235 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0002g0261 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0309 a0001c0004t0002g0320 a0001c0004t0002g0321 a0001c0004t0002g0323 a0001c0004t0002g0326 a0001c0004t0002g0342 a0001c0004t0002g0344 a0001c0004t0002g0373 a0001c0004t0002g0374 a0001c0012t0001g0043 a0001c0012t0001g0044 a0001c0017t0001g0225 a0005c0007t0002g0283 a0005c0007t0002g0301 a0005c0007t0002g0315 a0005c0007t0002g0316 a0005c0007t0002g0318 a0005c0007t0002g0319 a0005c0007t0002g0329 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0002g0270 a0008c0010t0002g0291 a0008c0010t0002g0292 a0008c0010t0002g0295 a0010c0013t0002g0274 a0010c0013t0002g0328 a0011c0014t0001g0123 a0011c0014t0001g0124 a0012c0018t0002g0339 a0014c0020t0001g0195 a0016c0019t0001g0234 a0017c0021t0002g0287 a0018c0022t0001g0210	242	384	0.6302	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734		chr3	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0140 a0003c0003t0001g0167 a0003c0003t0001g0173 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0135 a0003c0003t0003g0202 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0018t0003g0007 a0003c0019t0003g0216	68	398	0.1709	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DEPP1_chr10_44971128_44983809	44977450	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03831.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18978.hp1 NA18978.hp2 NA18994.hp1 NA19055.hp2 NA19066.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0009 a0002c0003t0010 a0002c0004t0001	a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 others(6): Show a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 a0002c0003t0002g0007 a0002c0003t0005g0027 a0002c0003t0005g0034 a0002c0003t0009g0028 a0002c0003t0010g0037 a0002c0004t0001g0008	28	421	0.0665	1	c.580 others(4): Show c.580dupC	p.Arg others(5): Show p.Arg194fs	DEPP1	ENSG00000165507.9	transcript	ENST00000298295.4	protein_coding	2/2	797/2120	580/639	194/212		chr10	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0017 others(2): Show a0002 a0006 a0017 a0018 a0019	a0002c0002 a0002c0005 a0002c0024 others(7): Show a0002c0002 a0002c0005 a0002c0024 a0002c0025 a0006c0008 a0006c0019 a0006c0029 a0017c0026 a0018c0021 a0019c0030	a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 a0002c0025t0001 a0006c0008t0001 a0006c0019t0001 a0006c0029t0001 a0017c0026t0001 a0018c0021t0001 a0019c0030t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0176 a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0166 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0170 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0024t0001g0148 a0002c0025t0001g0070 a0006c0008t0001g0018 a0006c0008t0001g0027 a0006c0008t0001g0099 a0006c0008t0001g0107 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0144 a0006c0019t0001g0143 a0006c0019t0001g0145 a0006c0029t0001g0003 a0017c0026t0001g0175 a0018c0021t0001g0068 a0019c0030t0001g0009	132	433	0.3049	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0140 a0001c0001t0003g0006 a0001c0001t0003g0049 a0001c0001t0004g0149 a0001c0001t0005g0038 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0005 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0009g0042 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0011g0039 a0001c0001t0012g0003 a0001c0001t0012g0145 a0001c0001t0013g0013 a0001c0001t0014g0146 a0001c0001t0017g0106 a0001c0001t0018g0148 a0001c0001t0019g0143 a0001c0001t0021g0114 a0001c0003t0001g0116 a0001c0004t0001g0142	56	139	0.4029	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DMBT1_chr10_122555754_122648736	122582487	TTTGGCAT others(12679): Show TTTGGCATTTGTATTCAAACTTGACTACTTTTCCCATTGCCCTGAGTGTT GTCCATGCCTTTTCCTTCACCTCAGAATGGAGATGGATGAAGGATTCTTG TGTTCCCCTGTAGGACCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGG AGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGG GCACCGTGTGTGATGATAGCTGGGACACCAGTGACGCCAATGTGGTCTGC CGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTT TGGCCAGGGTTCAGGACCCATTGTCCTGGATGACGTGCGCTGCTCAGGCT ATGAGTCCTACCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCATAAC TGTCAGCACAGTGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAAG ACCTTGGGCTCCCTCTCTTGGGGTAGATTTTGCTCAGGAAGCGAGGTCTC ATTATGTTCTGATCTCCTCACTCAGAGCTTTTTCAGCCTTTCCTATATAT CTGATATCTCCTTAGCTCTCTCCTAGGAAACTGCATGAGTCTTCATTGCC AGGTTTTGAGGAGGTCAGGTAGGACAACGGGCCAAAGTGAAATAAGGGTC ACGCCTTTGTTCACCTACCGAGGCAGCGCAAGCAGAGGGAGAAGAGGAAA GTGCCAGGTCTTTGCCTTTTAGTGTGGCTGGAAAGGAATAGCTGGGGCTG GTTTGTTCATGAGGAAAGAGGCTGATTTGGGTCTTGGCTTTGCAGGCTGC ATAGGACCATGGTGCAGGCGTCTGCTCAGCTTCTGATGAGGGCCTCGGGC TGCTTGTACTCCTAGCAGAAAGGGATGGGGAGGTGGCCTGGGCAGAGGTC ACAAGGTGAGGGAGGAAGGAAGAGAGAGCAAGAGGGAGGGCTCAGACTCT TCAACCACCAGCTCTTGCTAGGAACTAAGAGAAGAACTCACCCCTGACCA GGGAGGGCACTAAGTTATTCATGCAGTGTTGGTCTCCATGACCCAGACCT GGTGCATCAGGCCTCACCTCTAAACTTGGGGATTCAGTTGCAATATAACA CTTGGATGTGACAAGCCTCTAAAGTATAGCACCCTGGCTCTCCAGGGTTC CATCTTTCCCCTACTGAAAGATTTTGCAAAGGGTTACATGGATGAAGCAC ATATAGAGGATGGGGGAGGGACTGTCTCCCTGGGAGGAGCCCAGAACCAC AGGCTCCTGCTAGGAAGCGCGGTCTTCTGCTGAGGCCCAATAAGGTGATG TCTTAATAGAGACACAAGGCTAGGAGTGCGGATGTGTGTCTGTCCCTCTC TGGCCTGAGATTTGGGGGCTGTGAGTCCTTGACCACAACTCCCTCCAGAG CACTGCAGTGTCTTGCCTGTGCACCGGTCTGGTGTGGAGTGTGCAGTCCC CATGAGGTCTGCTAGGCAAAGCATTGTTATGAACGCCTGTGGGCTGGACT GGAACATCAGAGGCAGGACTTTGGCTGGAGTGGCCTCCTCACATTTGCTA ACTCAGGGACTGCTAAGACATGCAAGGGAGAGGGTAGGTTTTGTGTCAAC CTGATTACTATGGGCAGACACAAGGTTAATCACCTTGGAGTTGGCAATAG TGGACAGGATCTGCCCAGACACCCTCCAAGGAGCATCTCTGTGGGGACAT GCATGGCAATGCCCTCCCTCTGTGATGGGGACCTAGGGTGGACTGAAGGC ATGATCTGTTTAGTTCCTTCCACCTTTGTTCCGATTTTGCCAGCTTCTGT ATAGTGCATCTGATCTGACCTCCTCTTTCTCACAGCTGCCCACTCCTGGT CGACGCCCAGTCCAGGTGAGTCCCCAGTGTCCTTCCTTGGGATGTCCCTT CTCTTTCTGTATAATTATCCCTTTCTGCACTCCACAGAGCCCTCGTTCTT CTCTGAGTGAATACTACATGGCATACAATTTTCCCCTGCTCTGTAACTGA GACCCTGGAATGGCGCTTCTGAACCAGACATAGGGTTCAAGAGGCTTCTG TCTTCTGTTCCATTTATCTCAGCTTTCATGAAGCAGTTTCATACTGTCCC AGTGGCCAACCCTTAGAGGTTTAGGAAGTGGCCTCATATTTAAATAGCTT TGACCCTTTTCTATTCAGAGCTGATATGACCTTCCTGAGAATTGAGAGTG ATTGCCAAAGTCTCCTCGGAAGCCAATGTCAGCTAAAGCCTTAAACATGG CTGCCGCCATGGGCAAGCAATGTCAGTGCAGGCCTGACACCTCCCTTCCT CACTCCTTCCAACACCCAGATTCTGCAGCGCTACATGTGCATCCAGAAGA GGCATAGGCCATGCTCGGGCAGGGAGAGGGATAATAAATATTTCTGGTGC CTCCACTTACTGGGAAACTTGATACCCCTTTGGTCAGCTCCTTGGTTTCC CTAACGTTTTAGCTCGAGCTAGTAGAGTGTCAGCAATGGTGTTAGATGTA CCCGTCAGTGCATGTGTCAGTGCATGGAACAGGCTAACCCTTTGTGACTG AGAAGAGGACATCCCACACTTCAGAGGCAGGAGGGATCGAACTGGTCTCC AGCAAGGCTTATGTCCCTTGCTGAGCTTGCTGAGCTGCAGACTTGGGCAG ACACATGGGGAGCAAAGTGGCAGGAATCAGAAGTGGGGTAGTTTTCATGA TGCTCGCCTTCTCCGGAGACTTTTCCTTTTGGAGATTTTCACCATCAACT TTAATTCTAGCCTTTGTCTCTGTTGCAATTACAGACACGTTGCCGACCAT CACCTTACCTGCATCGACAGTAGGTAAATAATCCTCTCGCCCCTCCCTAG GGCTCACTCTCTACCTCTGGACAAATGTTTTTTTCTGAAATGATAGGATG AGGGTCAAGGTGGGCCCCTCTGTTTTTCATGTCCCTGTGGGTTGCATGGG AGGAAGGTAGAGTCTCTGGGGACCCAGCTGTGGGTCTGATGTTGGAGGCT GGAGGGTGCTGGTGACTTTTCTCCCGTGGAATCCTGTTCCAAGTGGTCAG GAAACATCCTCATCCAGGTGCCAAGGAAAAGCCCTGGAAGCTTCCCTAAT CCTACTAAGACCTCATTCCTGTCCCTCAGCCCATGGGCTGCAGAGGTGTG AAGAGTCAGTGAAAGTGAGTGTCCCCACACCTGTCTGGCCAAGGCCTTGT CATACCTGTGAAATTTTCAGAAGCCAGACAGGACCATAGGATTGCCACCA AGCTCCTGAGATGGGGAGAGTCTGGCCTGCCTACTGTAGCTGTGTAGCTC CATCCTGTGTGTGCCCAGGTTAGGGAATGGGGTTTCCGTTCCTGTTAACT CCAGTAGGGTCACAGGTGCTTCCCCAAACTTGAGCCTTCATAAACCCAGG CAGAACTGCTTCTTTGACTTTGATGAAGCTGAATCTCTGGTTTTATTCAT ATTCAAAGGTGACTGCCTGCCCAGGTGACTTTAGCCATTAGGACGTGCCT TGAGTGTGGAACATTCCTTAGATTCTTGACCTCATGATAGGGATGGATGA AGGGTTCTTGTTTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACAGCTGGGACACCAATGATGCCAA TGTGGTCTGCAGGCAGCTGGGCTGTGGCTGGGCCATGTTGGCCCCAGGAA ATGCCCGGTTTGGTCAGGGCTCAGGACCCATTGTCCTGGATGACGTGCGC TGCTCAGGGAATGAGTCCTACTTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCATAACTGTGGCCATAGTGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACTTTTGGTTTCCTCTCTTGGGGTAGATTTTGCTCAGGAA GGTTTTATTATGTTCTAATCTCCTCACTTAGAGCTTTTTCAACTTTTCCT ATATTTCTGATACCTCCTTAGCTCTCTCCTAGGAAACCGCATGAGTCTTC ACCACATTGCCAGGTTTTGAGGAGGTCAGAGAGGACAATGGGCCAAAGTG AAATAAGGGTCACACCTTTGTTCCCCTACTGAGGCAGCGCAAGCAGAGGG AGAAGACGAAAGCGCCGGGTCTTTGCCTTTTAGTGTGGCTGGAAAGGAAT AGCTGGGGCCAGGTTGTTCATGAAGATAGAGGTTGATTTGGGTCTTGGGT CTTTGCAGGCTGCATAGGAGCATGGTGCAGGCATCTGCTCGGCTTCTGCT GAGGACCTCAGGCTGCTTGTACTCCTGGCAGAGGGGATGGGGAGCTGGCC TGGGCAGAGGTCACATGGCGAGGGATGAAGCAAGATGGCAGAAGAAGATG GGGAGGTGGCCTGGACAGAGGTCACATGGTGAGGGAGGAAGCAAGAAAGA GCAAGAGGGAGGGCCCAGACAGTTTTCAACCACCAGCTCTTTCTAGGAAC TAAGAGAAGAACTTACCCCTGACCAGGGAGGACACTAAGTTATTCATGAA GAGTTGGCCTTCATGACCCAGACATGGCACATCAAGCCTCACCTCTATAC TTGGGGATCCAATCCCAACATGAGTCTTAGATGGGACAAACATCCAAACT ATAGCATGCTGCCTCTCCAGGGTTCCACCTTTCCCCTACTGAAAGGTTTA GGTGAGGGTGAGGTGGATGCAGCACATATAGGCATTGAGGGAGGGACGGT CTGACTGGGAGGATTCCAGAACCAAGGGCTCATGCTGGGAAGGGAGGGTT TTCTGCTGAGGACTAATAAGGAGGCATCAGACCGGAAACACAAGGCTGGG AGTGGAGATTCGTGACTGTCCATATCTGACCTGGGTTTTGGGGGTGTGAG TGCTTGATTGCAATTCCCTCCAGAGCACTGCAGTGTCTTGCCTGTGCACC GGTCAGGTGTGGGGCAGGCAGTGCCCATGAGGCTTACTGAGCAAAGCCTT GTTATGAATGCCTGTGGGCTGGGCTAGAAGATCACAGGCTGGATATTTTT TTTTTGCAGGAGTGGCCTCTTCATACTTGCTGACTCAGGGACTGCTAAGA TGTGCAAGGGAGTGGGTTGGTTTTGTGTCAACCTGATTACTATGGGCAGA CACAAAGTCCTTCAAACACCCCCAGATGCAGCAGGGCCCCATCTACATGC GGAAAGGCAGAGGCCGTGCTCAGGCAAGGAGAGAGATATTAGATATTTCT GGTACCTCCACTTGCCAGGAGACTTTATACTCCTTTGGGCAGCTCCCTGA TCCTTCTAACATTTTAGCTGTAACAATCAGAGGCTCAGCAATGGTGTCAG ATGTGTCCATTAGTCCATGTGTCAGTGGATGGGGCAGGCAAACCCTTTGT AGCTGAGAAGAGGATATCCCACACTTCAGAGGTAGGAGGGATTGGACTGG TCTCCAGCGAGGCCTATGTCCCTTCCTGAGCTTACTGGGCTGAAGAGTTG GGCAGACACATGGGGAGCAAGTGGCAAAAACCAGAAATCCAGTAGTTTTC ATGATGCTTGCCCTATCTGGAGACTTTTCCTTTTGGAGCTTTTCACCCTC AAGTTTAATTCTAGCCTTTGTCTTTGTTGCAATTAAAGACACGTTGCCGA CCACCACATTACCTGCATCAACAGTAGGTACAGAATCTTCTCACCCCCAC TAGGGCTCACTCTCTACTTCTGGACAAATGTTTTTTTCTGAAAATGAGAG GATGAGGGTCAGGGTGGGTCCCTGTCTTTTTCATATCCCTGTGCATTGAG TGGGAGGAAGTTGGAGTCTCTGGGGAGCCAGTCCTGCTTCTGGTGTTGGA GGGTAGAGGGGGCTGGTGACCTGTCTCCCTTGGGATCCTCTTCCAAGTAT CAGGAAATAATAAAGAAAAAAAAAAAAGATCCTCATCCAGGTGCTGAGGA CAAGCCCTGGAGGGCTCCCTACTCCTATTCGACCTCGTTCCTGGCCCTCC AGCCATGCACTGCAGACCTGCAAGGGTGGGTGACAGTTTCTGTCCCTGCA GCTGTCTGGCCAAAGCCTTGCCATCCTTGGCAATTTGCCAGAAGCCAGGG AGGACCATGGGGGTGCCACCTAACTCTTGAACATGGGGACAGCATGGTCC TGCCCTCTGGAGCTGTGGAGCTCCATCCTGTGTGTGCCCAGAGTAGGGAG TCGGTTGTCTATTCCTGTCACCTCCACTGGGGTCACAGGTGCTTCCCCAA AACTTGAGCCTTCATAAACCCAAGGAGAATAGTGTATCACCTCTCCTTCT ACTGTGATGAAGCTGAACCTCTGGTTGCAGTCATCTTTAATCGTGACTGC CTGCCCAGGTGACTTTGGCCATTAGGAAGTGCCCTGAGTGTGGAATGTGC CTTAGATCCTTGACCTGCTGATAGGGATTGATGAAGGGTTCTTGTGTTCT CCTATAGGACCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGA CAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCTTGGGGCACCG TGTGTGATGACAGCTGGGACACCAATGATGCCAATGTGGTCTGCAGGCAG CTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTTTGGTCA GGGCTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGACATGAGT CCTACCTGTGGAGCTGCCCCAACAATGGCTGGCTCTCCCACAACTGTGGC CATCATGAAGATGCTGGTGTCATCTGCTCAGGTGGGCCTCCAGCAATTTT GGTTTCCTCTCTTGGGGTAGATTTTGCCCAGGAAGAGAGGTCTTATGTTC TAATCTCCTCACTCAGAGCTTTTTCAACCTTTCCTATGTTTCTGATATCT CCTTAGCTCTCTTCTAGGAAACTGCATGAGTCTTCACCACAGTGCCAGGT TTTGAGGAGGTCAGAGAGGACAATGGGCCAAAGTGAAATAAGGGTCATGC CTTTGTTCCCCTACCAAGGCAGCGCAAGCAGAGGGAGAAGAGGAAAGGGC TGGGTCTTTGCATTTTAGTGTGGCTGGAAAGGAATGGCTGGGGTCAGGTT ATTCATGAAGAAAGAGGCAGATTTGGGTCTTGGCTTTGCAGGCTGCATAG GAGCGTGGTATCTGCTTGGCTTCTGCTGACAGCCTCAGGCTGCTTGTGCT CCTGGCAGAAGGAGATGGGGAGGTGGCCTGAGCAGAGGTCACGTGGCAAG GGAGGAAGCAAGAGAGGGCAAGAAGGAAGGCCCAGGCTCTTTTCAACCAC CAGTTCTTGCTAGAAACTAAGAGAAGAACTCACCCCTGATCAGGGAGGGC ACTAAGTTGTTCATGAATGGTTGGCTTCCATGACCCAGACATGGCACATC AGGCCTCACCTCTATACTTGGGGATCCAATCCCAACATGAGTCTTGTATG GGACAAACATCCAATCTATAGCACACTGGCTCTCCAGGGTTCCATCTTTC CCCCACTGAAAGGTTTAGGTGAGGGTGAGGTGGATGGAGCACATATAGGT GTTGGGGGACGGACGATCTCACCGGGAGGAGTCCAGAACCAAAGGCTTAT GCTGGGAAGGGAGGGTCTTCCGCTGAGGCCCAGTAAGGAGGCATCAGACT GGAAACACAAGGCTGGGAGTGCAGATCTGTGTCTGTCCAAGTCTGGCCTG GGTTTTGGGGGTGTGAGTGCTTGACTGCAATTCCCTCCAGAGCACTGCAG CATCTTGCCTGTACACCAGTCAGGTGTAGGGCGGGCAGTGCCCATTAGGG CTGCTGAGCAAAGCCTTGTTATGAATGCCTGTGGGCTGGGCTAGAAGATC ACAGGCTGGATTTTTGCTGGAGTGGCCTCTTCATACTTGCTGACTCAGGG ACTGCTAAGACGTGTAAGGGAGAGGGTTGGTTTTGTGTCAACCTGATTAC TGTGGGTAGACACAAACTTAATCACTTTGGAGCTGGCAGTAGTGGACAAG ATCTGCCCAGATGCCTTTCAAGGAGCATCTTTGTGGGGACGTGCATGGCA ATGCCCCTCCCTCTGTGATGGGGACATAGGGTGGACTGAAGGCGCTACCA GTTTAGTTCCTTGTACCTTTGTTCTGGTTTTGCCAGCTTCTGTATAGTGC ATCTGATCTGACCTCCTCTTTCTCACAGCTGCCCAGTCCCGGTCGACGCC CAGGCCAGGTGAGTCCCCAGTGTCCTTCCTTGGGATGTCCCTTTTCTTTC TGCACAATTATCCTTTTTCCCATTCCACAGAGCCCTCCTTCTTACCTGTG TGGATACTGTGGGTCATACTATTTTCCCTGCTCTGTAACTGAGACCCTAG CATGGAGCTTCTTAACCAGACATGGTTAAGAAGGTATGATCTTTCTAAGA ATTGAGAGTGATTGCCAAAGTCTCCTGGGAAGGCAATTTCAGCTAAAGCC TTAAACATGCCTGTCCATGGGCAAGAATGTCAGTGCAGGCCTGATACCTC CATTCCTCACTCCTTCAGACACCCCCAGATGCGGCAGGGCCCCATCTACC TCCAGACAGGCAGAGGCTGTGCTCAGGCAGGGAGAGCGATATTAGATATT TCCGTTGCCTCCACTTGCCAGGAGACTTTATACTCCCTTAGGCAGCTCCC TGATCCTTCTAACATTTTAGTTTCAAGCGTGAGAGGCTCAGCATTGGTGT CAGATGTGCCCATCAGTCCATGTGTCAGTGGATGGGGCAGGTAAACCCTT TGTAGCTGAGAAGAGGGTATTCCACACTTCAGAGGCAGGAGGGATCGGAC TGGTCTCCAGTGAGGACTATGTCCCTGGCTGTGCTTCCTGAGCTACAGAC TTGGGCAGACACATGGGGAGCAAGTGGCAGGAACTAGAAATGGAAGAATA TTCATGATGCTTGCCTTGTCCAGAGACCTTTCCTTTTGGAGCTTTTCTCC CTCAACTTTAATTCTAGCCTTTGTCTTTGTTGCAATTTACAGACACGTTG TCGACCATCACGTTACCTCCATCGACAGTAGGTAAATAATCCTCTCACCC CTCCCTAGGGCTCACTCTCTACCTCTGGACAAATGTTTTCTCTGAAAATG ATAGGATGAGGGTCAAGGTGGGCCCCTGTCTTTTTCACATCCCTGTGCGC TGAGTGGGAGGAAGTTGAGTCTCTGGGGAACCAGTCCCGGGTCGGGTGTT AGAGGGTGGAGGGTGTTGGTGACCTATCTCCTGTTGGACCGTGTTCCAAG TATCAGTAAAGATCCTCATTCAGGTGCTGGACAAACCCTGGAGAGCTCCC TACTCCTGGGACCTCATTCCTGGCCTTCTGGCCATGCATTGCAGACCTGC AAGGGAGGGTGAAAATTTCTGTCCCTGCAGTTGTCTGGCCAATGTGTTGC CATCCCTGGCAATTTGCCAGAAGCCAGAGAGGACCACGTGGGTGCCACCA AACTCTTCGACATGGGGATAGCATAGGCCTGCCCTCTGGAGCAGTGGAGC TCCATCCTGTGTGTGCTCAGAGTAGGGAGTGGGGTGTCCATTCCTGTCAC CTCCACTGGGGTCACAGGCGCTTTCCCAAAATCTGAGCCTCCATAAACCC AGGCAGAATAGGGTATCACCTCTCCTTCCAGTATGATGAAGCTGAACCTC TGGTTGCAGTCGTATTCAATCGTGACTGCTTGTCCAGGCGACCTTGGCCA TTAGGAAGTACCCTGAGTGTGGAACGTGCCTTAGATCCTTACCTCATGGT AGGGATGGATAAAGGGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTT TGACCCTGAGGCTGGTGAATGGAAGTGACAGGTGTCAGGGCCGAGTAGAG GTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACAGCTGGGATAC CAATGATGCCAATGTGGTCTGCAGGCAGCTGGGCTGTGGCTGGGCCACGT CGGCCCCAGGAAATGCCCGGTTTGGCCAGGGCTCAGGACCCATTGTTCTG GATGATGTGCGCTGCTCAGGACACGAGTCCTACCTGTGGAGCTGCCCCCA CAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGATGCTGGTGTCA TCTGCTCAGGTGGGCCTCCAAGACCTTGGGCTCCCTCTCCTAGACTGGAG TTTGCTCAGGAAGAAAATCCTAATTACATTCTGATCTCCTCACTCAAAGA TTCTTCTATGTTTCCTATATTTATGTAGTCTTGTTAGCTCTCTGCTAAGG ATCTGTATGAATTTTACTACAGGGCTTGGTGTTCCTGTGGTCACTTAGGA CAGGCCCCAAACTGAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCA GTGCAAGAAAGAGGCCGAAGAGAAAACTGCTGGCTCCCCAGGGTTCCATT TCTCCTCAGCTGAGTAGCACTGGGTGAGGGTATCATGGACATAGGACAGA CAGCAAGGTAGGGGAGGAATCCTCTCACTGAGAGGAACTCTGAGCTAAAG ATGCTTGTCTGAAAGTGAGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGG AAATAGAGGCTCAAGGGTTAGGGGTGCAAATGGGTGTCTGGTTCTATCAG GCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACG CTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCA TGAGACAGGCCAGGCATGGCCTTGTTATTGCCTGTGGTCGGGGCTTGAAG ATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCA GGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACCGGGTT ACCCTGGGCAGACACAATTTGATCACCTCAGAGCTGGCAATAGTGGAAGG ATCTGCCTCGACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCA ATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCG CTCATTTCTTTCCCTCCTCGTTCCAGTTTTGCCGACTTCTGTGTAATGTT CCTGATCTGACCTTCTCTTCTCTTTCTCACAGTTTCCCAGTCCCGGCCGA CACCCAGTCCAGGTAGGTCCCCAGTGTCCTTCCTCAAAATGTCCCTTCTC TTTCTGCCCAATCACCCCTTCCACACTCCACAGAGCTCTCCTGTTTCTCT GTGTGGATACTGTGGGGCATATTATTTCCACCCCCAACACCGGCTGTGTA ACTGAGACCCCAGCACAGCGCTTTTTAAACACACACAGGATTGAGGAGGC CTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGTTTCATACT GTCCCAGTGGACAACCCTTACAGGTTCAGGAAGTGGCCCCATGTTTAATG AGCTTTGGTCCTTTTATATTCCGGACTCACATATAGTTTCTGAAAATTGA GGGTGTCACCCTCTGACCCGTTCAAGGCATCGTCAGGGCAGGCTCGATAC CCCCATCCATCACTGCTGGAAACATTCCGAGATTATGATTCCGAGATTTC TATCCAGAAGAGGCAGAGTTTGTGCTCGGGCAGGGAGAGGGATAATAAAG GTTTGTGATGTCTCTGCTTAACCAGAAACCTGATTCCTGATTGTCCCCTG GGCAGCCCCTGGTTCCCCTAACATTTTACCTGGCAGTGTCCGAGCCTCAG CAATGGCGTCTGATGTCCTAGTCAGTCCATGCATCAGCAGATGTGGGATG GCATGGTGGGGGCATCCTCTAACAGATAGAAAGATACCCCAGGATTAGAG AAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTCCCTGGATGAG TTCACAGCACAGGAGACCTGGGAAGACACATGGGAAACAAATGGCAGGAA CAAGAAGTGGAATTGTTGTCACGTTGATTCCTCCTCCCAGAGATCCTTTT GTTCTGTGCCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCCTTTTGTTGC AATTTACAGATACTTGGCCGACCTCACATGCATCAACAGCAGGTAAATAA CCCTCTCACCCCTCCCTAGGACTCACTATCTCTGGACATATTTTGTGTTT GAAACTGATAGGATGAGGCTCAATGTGGGCTTCTCTGTTTTCATGTCCCT GTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGTCCTGGGTC TGATGTTTGAGGACGGAGGGTGTTGGTGACCTGTCTCCCATGGAATCCTG TTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGACGAGCACTG GAGGGCTCCTTAATGCTGCTGGGACCTCATTCCTGGCCCTCAGGCCATGG GATCCAGACCTCTGAAGAGCGGGTGAAAGTGCCGGTCCCTGCACCTGTGT GGCCAAGGCCTTGCCATCACTGGCAATTTGCCAGAAGGCAGAGAGGCCCA TGCAGGTGCCAATAAGCTCCTGAATATGGAGGGGGTCTAGGCCTGTCATT TGTAGCTGTGTAGCTCCATCCTGTGTTCACCCAGAGTGGGGAGTGGGGTG TCCATTCCTGTCCTCTCCTCTGGGGTCATACATGCTTACCCATAGCTTGA GCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACTATGACCA AGCTTAACCTCTGGGTGCAGCCATCTGCCATTGTGAC	T T	exon_loss_variant exon_loss_variant	HIGH	NA18955.hp2 NA18955.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0003 a0006c0004t0003	a0006c0004t0003g0136 a0006c0004t0003g0136	1	280	0.0036	-12686	c.106 others(17): Show c.1067-111_2564-129del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	13/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(12170): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATG CCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGC CCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGA AGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAA TGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAA ATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGC TGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAA GAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTAT GTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATG AATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACC AAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGG AAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCT GCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGG CAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGT CTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAG GCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGG TTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGA GCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACT GGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACAC AAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACAC CTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0003 a0006 others(21): Show a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0017 a0019 a0026 a0029 a0030 a0031 a0033 a0034 a0036 a0038 a0040 a0043 a0048 a0050	a0002c0007 a0003c0003 a0003c0054 others(26): Show a0002c0007 a0003c0003 a0003c0054 a0006c0004 a0007c0062 a0008c0009 a0008c0063 a0009c0013 a0009c0018 a0010c0011 a0011c0012 a0011c0032 a0014c0020 a0015c0017 a0017c0016 a0019c0058 a0019c0064 a0026c0051 a0029c0043 a0030c0059 a0031c0029 a0033c0035 a0034c0031 a0036c0070 a0038c0071 a0040c0030 a0043c0065 a0048c0073 a0050c0041	a0002c0007t0001 a0002c0007t0004 a0003c0003t0001 others(32): Show a0002c0007t0001 a0002c0007t0004 a0003c0003t0001 a0003c0054t0002 a0006c0004t0001 a0006c0004t0003 a0006c0004t0004 a0007c0062t0001 a0008c0009t0002 a0008c0063t0001 a0009c0013t0001 a0009c0013t0003 a0009c0018t0002 a0010c0011t0001 a0010c0011t0009 a0011c0012t0001 a0011c0032t0002 a0014c0020t0004 a0015c0017t0002 a0017c0016t0003 a0017c0016t0005 a0019c0058t0002 a0019c0064t0003 a0026c0051t0001 a0029c0043t0001 a0030c0059t0001 a0031c0029t0001 a0033c0035t0001 a0034c0031t0001 a0036c0070t0003 a0038c0071t0001 a0040c0030t0001 a0043c0065t0002 a0048c0073t0001 a0050c0041t0007	a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 a0002c0007t0001g0223 a0002c0007t0001g0225 a0002c0007t0001g0226 a0002c0007t0001g0228 a0002c0007t0001g0230 a0002c0007t0004g0224 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0110 a0003c0003t0001g0115 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0160 a0003c0003t0001g0192 a0003c0003t0001g0239 a0003c0054t0002g0094 a0006c0004t0001g0118 a0006c0004t0001g0130 a0006c0004t0001g0140 a0006c0004t0003g0005 a0006c0004t0003g0017 a0006c0004t0003g0020 a0006c0004t0003g0128 a0006c0004t0003g0131 a0006c0004t0003g0134 a0006c0004t0003g0135 a0006c0004t0003g0136 a0006c0004t0003g0141 a0006c0004t0003g0144 a0006c0004t0004g0209 a0007c0062t0001g0066 a0008c0009t0002g0010 a0008c0009t0002g0061 a0008c0009t0002g0064 a0008c0009t0002g0068 a0008c0009t0002g0069 a0008c0009t0002g0070 a0008c0009t0002g0071 a0008c0009t0002g0138 a0008c0063t0001g0065 a0009c0013t0001g0021 a0009c0013t0001g0156 a0009c0013t0003g0196 a0009c0018t0002g0194 a0009c0018t0002g0195 a0009c0018t0002g0216 a0010c0011t0001g0042 a0010c0011t0001g0044 a0010c0011t0001g0045 a0010c0011t0001g0047 a0010c0011t0009g0043 a0011c0012t0001g0088 a0011c0012t0001g0090 a0011c0012t0001g0107 a0011c0012t0001g0108 a0011c0032t0002g0089 a0014c0020t0004g0095 a0014c0020t0004g0096 a0014c0020t0004g0097 a0015c0017t0002g0054 a0015c0017t0002g0055 a0015c0017t0002g0056 a0017c0016t0003g0116 a0017c0016t0005g0018 a0019c0058t0002g0040 a0019c0064t0003g0038 a0026c0051t0001g0112 a0029c0043t0001g0211 a0030c0059t0001g0051 a0031c0029t0001g0109 a0033c0035t0001g0197 a0034c0031t0001g0105 a0036c0070t0003g0046 a0038c0071t0001g0041 a0040c0030t0001g0091 a0043c0065t0002g0024 a0048c0073t0001g0025 a0050c0041t0007g0227	99	269	0.3680	-12177	c.350 others(9): Show c.3506_4666del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122613317	CGTGGGAG others(4053): Show CGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTT GAGGATGGAGGGTGCTGGTGACTGTCTCCCATGGAATCCTGTTCCAAGTG GTCAGGAAAGATCCTCATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCC TTAATCCTACTGGGACCTCGTTCCTGGCCCTCAGGCCATGGGATCCAGAT CTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGT CTTGCCATCACTGGCAAATTGCCAGAAGGCAGAGAGGACCATGCAGGTGC CAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGT GTATCTCCATCCTTTGTGTACCCAGAGTGGGGAATGGGGTGTCCATTCCT GTCCCCTCCTCTGGGGTCATACATGCTTACCCATAGCTTGAGCTTTTATA GACTTGAGTAGAATAGGGCATCACTTTTTCCACTATGACAAAGTTTAACC TCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGACTTCTGC ATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGTTGTCCAT GCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTTGTGTTCC CCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGA CAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCACCG TGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTGCAGGCAG CTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCA GGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGACATGAGT CCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAACTGTGGC CATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTC GGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCTAATTACA TTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGTATTTATG CAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCTACAGCGG TTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAACAACAAC CCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAA AACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGT TGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGGGATCCTC TCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTC AGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAG TGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAG TCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTG GGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTC ATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTTTGGCTGG AGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACCTAAGATGTGCAAGGG AGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACAATTTGAT CTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCCTTACACG GTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTGTGATAGG AACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCTCCTCATT CCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTCTCTTCTC TTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTAAGTTCCC AGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCACCCCTTCC CCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGGGGCATAT TATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTTTCTATTT TCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATACAAAAGAG CAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCAGCAGGTT CCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGGTGATTTT CAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGATCACATC CTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGGCAAGATC ACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGCACGCATT GTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGG TCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAAGCCTGGA AGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAAGCGTAAA AGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGAACAC ATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCAGCGATAT TTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTCTGCCTGG CCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTGAACAACG CTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTGTTTAAAC AATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGACATTCATC CTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGACAGGCAT AGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCATGAAATC TTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTAT AAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTTCAAATTT ATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGTCCCTGAC TTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATTCAGGAGG CCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGTTTCATAC TGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCATGTTTAAT GAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGAAAATTGA GGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGCTCGATAC CCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGACCACATTT GTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGATAATAAA GGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATTGTCCCCT GGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTGAGCCTCA GCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGATGTGGGAT TGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCAGGATTAG AGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTCATGGATG AGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAGTGGCAGG AACAGGAAGTGGAATTGTTGCCAGGTTGATTCCCCCTCCCAGAGAACCTT TTGTTCTGTGCCTTTTCCCTTCAAGTCTAATTCTGTCTTTTTTCTTTGTT GCTATTTACAGACACTTGGCCAACCTCTCGTGCATCAACAGCAGGTAAAC AATCCTCTCACCCCTCCCTAGGGCTCACTATCTCTGGACATATTTTGTGT TTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTCTTTTCATGTCC CTGTGGGTTGG	C C	exon_loss_variant exon_loss_variant	HIGH	NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show NA18955.hp1 NA18957.hp2 NA18964.hp2 NA18983.hp1 NA19010.hp1	a0012 a0012	a0012c0014 a0012c0047 a0012c0014 a0012c0047	a0012c0014t0002 a0012c0047t0001 a0012c0014t0002 a0012c0047t0001	a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 others(2): Show a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 a0012c0014t0002g0202 a0012c0047t0001g0229	5	280	0.0179	-4060	c.450 others(17): Show c.4504+134_4891+133del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	38/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0006 a0007 a0011 others(81): Show a0006 a0007 a0011 a0013 a0018 a0020 a0021 a0024 a0027 a0029 a0030 a0031 a0037 a0038 a0039 a0041 a0043 a0045 a0048 a0050 a0055 a0058 a0059 a0062 a0064 a0069 a0070 a0071 a0072 a0074 a0077 a0078 a0079 a0080 a0082 a0083 a0090 a0091 a0097 a0100 a0106 a0111 a0112 a0117 a0118 a0120 a0121 a0122 a0123 a0124 a0126 a0128 a0129 a0131 a0135 a0136 a0138 a0140 a0141 a0142 a0143 a0145 a0146 a0149 a0154 a0156 a0160 a0165 a0167 a0169 a0172 a0180 a0183 a0185 a0187 a0189 a0194 a0208 a0210 a0214 a0217 a0219 a0221 a0224	a0006c0214 a0006c0262 a0006c0266 others(98): Show a0006c0214 a0006c0262 a0006c0266 a0006c0272 a0007c0210 a0007c0212 a0007c0217 a0007c0270 a0011c0016 a0011c0199 a0013c0268 a0013c0271 a0013c0277 a0018c0017 a0018c0202 a0020c0224 a0020c0226 a0021c0244 a0021c0267 a0024c0218 a0024c0263 a0027c0019 a0029c0018 a0030c0021 a0031c0229 a0031c0237 a0037c0198 a0037c0203 a0038c0020 a0039c0253 a0039c0254 a0041c0222 a0041c0223 a0043c0264 a0045c0234 a0048c0233 a0050c0274 a0055c0191 a0058c0219 a0059c0273 a0062c0193 a0064c0197 a0069c0247 a0070c0236 a0071c0238 a0072c0189 a0074c0215 a0077c0187 a0078c0265 a0079c0269 a0080c0227 a0082c0200 a0083c0228 a0090c0239 a0091c0243 a0097c0216 a0100c0276 a0106c0220 a0111c0241 a0112c0192 a0117c0196 a0118c0251 a0120c0245 a0121c0190 a0122c0256 a0123c0246 a0124c0257 a0126c0232 a0128c0248 a0129c0183 a0131c0201 a0135c0221 a0136c0261 a0138c0258 a0140c0185 a0141c0240 a0142c0211 a0143c0194 a0145c0186 a0146c0259 a0149c0260 a0154c0250 a0156c0184 a0160c0231 a0165c0205 a0167c0188 a0169c0206 a0172c0255 a0180c0225 a0183c0249 a0185c0213 a0187c0230 a0189c0209 a0194c0207 a0208c0204 a0210c0195 a0214c0275 a0217c0242 a0219c0208 a0221c0252 a0224c0235	a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 others(99): Show a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 a0006c0272t0001 a0007c0210t0001 a0007c0212t0001 a0007c0217t0001 a0007c0270t0006 a0011c0016t0003 a0011c0199t0003 a0013c0268t0002 a0013c0271t0002 a0013c0277t0002 a0018c0017t0011 a0018c0202t0006 a0020c0224t0001 a0020c0226t0001 a0021c0244t0003 a0021c0267t0005 a0024c0218t0002 a0024c0263t0002 a0027c0019t0003 a0029c0018t0001 a0030c0021t0002 a0030c0021t0004 a0031c0229t0005 a0031c0237t0005 a0037c0198t0002 a0037c0203t0002 a0038c0020t0006 a0039c0253t0003 a0039c0254t0003 a0041c0222t0002 a0041c0223t0002 a0043c0264t0005 a0045c0234t0005 a0048c0233t0002 a0050c0274t0003 a0055c0191t0003 a0058c0219t0001 a0059c0273t0016 a0062c0193t0004 a0064c0197t0004 a0069c0247t0002 a0070c0236t0002 a0071c0238t0003 a0072c0189t0019 a0074c0215t0003 a0077c0187t0022 a0078c0265t0003 a0079c0269t0004 a0080c0227t0003 a0082c0200t0001 a0083c0228t0003 a0090c0239t0003 a0091c0243t0002 a0097c0216t0003 a0100c0276t0012 a0106c0220t0001 a0111c0241t0001 a0112c0192t0005 a0117c0196t0021 a0118c0251t0004 a0120c0245t0005 a0121c0190t0024 a0122c0256t0007 a0123c0246t0001 a0124c0257t0007 a0126c0232t0003 a0128c0248t0001 a0129c0183t0004 a0131c0201t0003 a0135c0221t0001 a0136c0261t0007 a0138c0258t0007 a0140c0185t0001 a0141c0240t0004 a0142c0211t0001 a0143c0194t0001 a0145c0186t0001 a0146c0259t0007 a0149c0260t0015 a0154c0250t0002 a0156c0184t0001 a0160c0231t0005 a0165c0205t0001 a0167c0188t0003 a0169c0206t0004 a0172c0255t0002 a0180c0225t0002 a0183c0249t0002 a0185c0213t0003 a0187c0230t0010 a0189c0209t0002 a0194c0207t0002 a0208c0204t0002 a0210c0195t0002 a0214c0275t0002 a0217c0242t0001 a0219c0208t0006 a0221c0252t0001 a0224c0235t0001	a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 a0006c0272t0001g0185 a0007c0210t0001g0209 a0007c0212t0001g0214 a0007c0217t0001g0182 a0007c0270t0006g0148 a0011c0016t0003g0171 a0011c0016t0003g0172 a0011c0199t0003g0141 a0013c0268t0002g0150 a0013c0271t0002g0153 a0013c0277t0002g0155 a0018c0017t0011g0169 a0018c0017t0011g0170 a0018c0202t0006g0162 a0020c0224t0001g0218 a0020c0226t0001g0136 a0021c0244t0003g0180 a0021c0267t0005g0186 a0024c0218t0002g0130 a0024c0263t0002g0140 a0027c0019t0003g0156 a0027c0019t0003g0190 a0029c0018t0001g0128 a0029c0018t0001g0157 a0030c0021t0002g0144 a0030c0021t0004g0152 a0031c0229t0005g0207 a0031c0237t0005g0201 a0037c0198t0002g0143 a0037c0203t0002g0161 a0038c0020t0006g0138 a0038c0020t0006g0145 a0039c0253t0003g0179 a0039c0254t0003g0177 a0041c0222t0002g0181 a0041c0223t0002g0178 a0043c0264t0005g0146 a0045c0234t0005g0212 a0048c0233t0002g0205 a0050c0274t0003g0184 a0055c0191t0003g0189 a0058c0219t0001g0223 a0059c0273t0016g0149 a0062c0193t0004g0188 a0064c0197t0004g0175 a0069c0247t0002g0166 a0070c0236t0002g0213 a0071c0238t0003g0193 a0072c0189t0019g0196 a0074c0215t0003g0202 a0077c0187t0022g0187 a0078c0265t0003g0147 a0079c0269t0004g0151 a0080c0227t0003g0135 a0082c0200t0001g0134 a0083c0228t0003g0191 a0090c0239t0003g0216 a0091c0243t0002g0195 a0097c0216t0003g0158 a0100c0276t0012g0154 a0106c0220t0001g0200 a0111c0241t0001g0194 a0112c0192t0005g0197 a0117c0196t0021g0168 a0118c0251t0004g0198 a0120c0245t0005g0127 a0121c0190t0024g0219 a0122c0256t0007g0221 a0123c0246t0001g0232 a0124c0257t0007g0222 a0126c0232t0003g0208 a0128c0248t0001g0231 a0129c0183t0004g0211 a0131c0201t0003g0131 a0135c0221t0001g0233 a0136c0261t0007g0227 a0138c0258t0007g0228 a0140c0185t0001g0224 a0141c0240t0004g0132 a0142c0211t0001g0230 a0143c0194t0001g0159 a0145c0186t0001g0210 a0146c0259t0007g0220 a0149c0260t0015g0226 a0154c0250t0002g0133 a0156c0184t0001g0225 a0160c0231t0005g0192 a0165c0205t0001g0229 a0167c0188t0003g0215 a0169c0206t0004g0173 a0172c0255t0002g0160 a0180c0225t0002g0204 a0183c0249t0002g0217 a0185c0213t0003g0142 a0187c0230t0010g0203 a0189c0209t0002g0163 a0194c0207t0002g0165 a0208c0204t0002g0164 a0210c0195t0002g0167 a0214c0275t0002g0183 a0217c0242t0001g0129 a0219c0208t0006g0176 a0221c0252t0001g0199 a0224c0235t0001g0206	107	296	0.3615	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	163	402	0.4055	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar
EFCAB13_chr17_47318955_47446312	47347921	C C	T T	stop_gained stop_gained	HIGH	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(25): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01123.hp2 HG02004.hp2 HG02027.hp2 HG02155.hp2 HG02602.hp2 HG02738.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19063.hp2 NA19075.hp1 NA19081.hp1	a0005 a0011 a0005 a0011	a0005c0005 a0011c0027 a0005c0005 a0011c0027	a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 others(2): Show a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0007 a0011c0027t0001	a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 others(25): Show a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0071 a0005c0005t0001g0074 a0005c0005t0001g0075 a0005c0005t0001g0110 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0200 a0005c0005t0001g0201 a0005c0005t0001g0202 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0208 a0005c0005t0001g0210 a0005c0005t0001g0211 a0005c0005t0001g0212 a0005c0005t0001g0274 a0005c0005t0001g0342 a0005c0005t0002g0225 a0005c0005t0003g0117 a0005c0005t0003g0327 a0005c0005t0007g0213 a0011c0027t0001g0121	28	354	0.0791	0	c.631 others(3): Show c.631C>T	p.Arg others(4): Show p.Arg211*	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/25	1068/3957	631/2922	211/973		chr17	TogoVar
EXO5_chr1_40503767_40521038	40515335	CTG CTG	C C	frameshift_variant frameshift_variant	HIGH	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(15): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 NA18612.hp2 NA18939.hp2 NA18955.hp1 NA18964.hp1 NA19056.hp2 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0002 a0001c0001t0002g0017	18	404	0.0446	-2	c.794 others(9): Show c.794_795delTG	p.Val others(5): Show p.Val265fs	EXO5	ENSG00000164002.12	transcript	ENST00000415550.6	protein_coding	4/4	1199/1899	794/1122	265/373	INFO_REALIGN_3_PRIME	chr1	TogoVar

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