Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
A2M_chr12_9062708_9120919	9093580	CTATGG CTATGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18953.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0012 a0016 a0001 a0012 a0016	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0012c0014 a0016c0013	a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 a0012c0014t0002 a0016c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0021t0002g0076 a0012c0014t0002g0079 a0016c0013t0002g0049	50	332	0.1506	-5	c.212 others(18): Show c.2126-6_2126-2delCCATA		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35						chr12	TogoVar
ABHD14B_chr3_51963515_51979049	51971622	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp2 HG02622.hp1 HG02717.hp1 others(7): Show HG01243.hp2 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0004 a0002c0002t0003g0041 a0002c0002t0003g0043	10	324	0.0309	0	c.49C others(2): Show c.49C>T	p.Gln others(3): Show p.Gln17*	ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding	2/4	162/1657	49/633	17/210			chr3	TogoVar
ACCSL_chr11_44042981_44064977	44048039	G G	A A	start_lost start_lost	HIGH	HG02622.hp1 HG03130.hp1 HG03225.hp2 others(1): Show HG02622.hp1 HG03130.hp1 HG03225.hp2 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0002 a0004c0006t0001g0030 a0004c0006t0001g0080 others(1): Show a0004c0006t0001g0002 a0004c0006t0001g0030 a0004c0006t0001g0080 a0004c0006t0001g0152	4	446	0.0090	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/14	59/1820	3/1707	1/568			chr11	TogoVar
ACOXL_chr2_110727573_111123548	110995965	GGTTCTTC others(47): Show GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATAC ACTGT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0000 a0004 a0008 a0000 a0004 a0008	a0000c0013 a0004c0005 a0008c0008 a0000c0013 a0004c0005 a0008c0008	a0000c0013t0001 a0004c0005t0001 a0004c0005t0002 others(2): Show a0000c0013t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0007 a0008c0008t0001	a0000c0013t0001g0046 a0004c0005t0001g0070 a0004c0005t0001g0134 others(8): Show a0000c0013t0001g0046 a0004c0005t0001g0070 a0004c0005t0001g0134 a0004c0005t0002g0004 a0004c0005t0002g0020 a0004c0005t0002g0022 a0004c0005t0002g0124 a0004c0005t0002g0127 a0004c0005t0007g0133 a0008c0008t0001g0015 a0008c0008t0001g0016	11	150	0.0733	-54	c.124 others(66): Show c.1246_1281+18delCTTCAGCGGGGTTTGGTGGCCAGAATTTATTAT AAGGTAAAGATACACTGTGTT	p.Leu others(13): Show p.Leu416_Lys427del	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1470/2699	1246/1743	416/580		INFO_REALIGN_3_PRIME	chr2	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 a0011 a0013 others(1): Show a0002 a0011 a0013 a0020	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0011c0016 a0013c0029 a0020c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0011c0016t0001 a0013c0029t0001 a0020c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 others(67): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0136 a0002c0002t0001g0153 a0002c0002t0003g0038 a0002c0008t0001g0040 a0002c0008t0001g0109 a0002c0011t0001g0001 a0002c0011t0001g0013 a0002c0024t0001g0101 a0002c0025t0001g0036 a0002c0026t0001g0124 a0002c0027t0001g0001 a0011c0016t0001g0001 a0013c0029t0001g0035 a0020c0028t0001g0001	150	400	0.3750	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
ADGRE1_chr19_6882579_6945450	6921702	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0004 a0006 a0007 others(24): Show a0004 a0006 a0007 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027 a0028 a0029 a0031 a0034 a0037 a0041 a0042 a0045 a0047 a0048 a0049 a0055 a0059 a0061	a0004c0004 a0006c0006 a0007c0007 others(24): Show a0004c0004 a0006c0006 a0007c0007 a0010c0012 a0011c0011 a0014c0016 a0015c0015 a0016c0014 a0017c0018 a0018c0017 a0019c0019 a0022c0022 a0027c0023 a0028c0066 a0029c0067 a0031c0065 a0034c0039 a0037c0061 a0041c0058 a0042c0057 a0045c0053 a0047c0055 a0048c0051 a0049c0059 a0055c0047 a0059c0031 a0061c0038	a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 others(40): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 a0007c0007t0005 a0010c0012t0001 a0010c0012t0005 a0011c0011t0002 a0014c0016t0001 a0014c0016t0006 a0015c0015t0003 a0016c0014t0002 a0016c0014t0004 a0016c0014t0005 a0017c0018t0002 a0018c0017t0004 a0018c0017t0005 a0019c0019t0001 a0022c0022t0001 a0022c0022t0006 a0027c0023t0001 a0028c0066t0004 a0029c0067t0002 a0031c0065t0002 a0034c0039t0006 a0037c0061t0002 a0041c0058t0002 a0042c0057t0004 a0045c0053t0007 a0047c0055t0006 a0048c0051t0004 a0049c0059t0001 a0055c0047t0002 a0059c0031t0005 a0061c0038t0001	a0004c0004t0001g0033 a0004c0004t0001g0049 a0004c0004t0001g0066 others(87): Show a0004c0004t0001g0033 a0004c0004t0001g0049 a0004c0004t0001g0066 a0004c0004t0001g0077 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0176 a0004c0004t0001g0177 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0186 a0004c0004t0001g0248 a0004c0004t0001g0254 a0004c0004t0001g0280 a0004c0004t0002g0123 a0004c0004t0002g0312 a0004c0004t0004g0114 a0004c0004t0005g0121 a0004c0004t0005g0124 a0004c0004t0005g0256 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0006g0153 a0004c0004t0006g0296 a0006c0006t0001g0191 a0006c0006t0001g0192 a0006c0006t0001g0193 a0006c0006t0001g0194 a0006c0006t0001g0195 a0006c0006t0001g0196 a0006c0006t0001g0265 a0006c0006t0002g0064 a0006c0006t0002g0298 a0006c0006t0004g0299 a0006c0006t0004g0300 a0006c0006t0005g0095 a0007c0007t0001g0083 a0007c0007t0001g0107 a0007c0007t0002g0096 a0007c0007t0002g0103 a0007c0007t0004g0309 a0007c0007t0005g0132 a0007c0007t0005g0288 a0010c0012t0001g0001 a0010c0012t0001g0063 a0010c0012t0001g0109 a0010c0012t0001g0209 a0010c0012t0001g0258 a0010c0012t0005g0295 a0011c0011t0002g0138 a0014c0016t0001g0125 a0014c0016t0006g0073 a0014c0016t0006g0074 a0014c0016t0006g0133 a0014c0016t0006g0134 a0015c0015t0003g0112 a0015c0015t0003g0154 a0015c0015t0003g0155 a0015c0015t0003g0156 a0015c0015t0003g0270 a0016c0014t0002g0072 a0016c0014t0002g0104 a0016c0014t0002g0116 a0016c0014t0004g0105 a0016c0014t0005g0117 a0017c0018t0002g0306 a0018c0017t0004g0090 a0018c0017t0004g0091 a0018c0017t0004g0120 a0018c0017t0005g0089 a0019c0019t0001g0048 a0022c0022t0001g0216 a0022c0022t0001g0234 a0022c0022t0006g0264 a0027c0023t0001g0220 a0028c0066t0004g0080 a0029c0067t0002g0152 a0031c0065t0002g0111 a0034c0039t0006g0321 a0037c0061t0002g0297 a0041c0058t0002g0099 a0042c0057t0004g0110 a0045c0053t0007g0094 a0047c0055t0006g0205 a0048c0051t0004g0316 a0049c0059t0001g0330 a0055c0047t0002g0101 a0059c0031t0005g0128 a0061c0038t0001g0147	91	338	0.2692	1	c.162 others(7): Show c.1621-3dupT		ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding	13/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
AGAP9_chr10_47496854_47528638	47502198	G G	GTACCAGA GTACCAGA	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show HG00735.hp2 HG01361.hp2 HG01884.hp1 HG02451.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0000 a0002 a0000 a0002	a0000c0013 a0000c0014 a0000c0026 others(2): Show a0000c0013 a0000c0014 a0000c0026 a0002c0002 a0002c0027	a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 others(2): Show a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 others(9): Show a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168	14	206	0.0680	7	c.193 others(16): Show c.1930_1931insTCTGGTA	p.Thr others(5): Show p.Thr644fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	2042/2387	1930/1977	644/658			chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502280	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(8): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0027 a0002c0002 a0002c0027	a0002c0002t0002 a0002c0027t0002 a0002c0002t0002 a0002c0027t0002	a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 others(6): Show a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168	11	206	0.0534	-1	c.184 others(5): Show c.1848delC	p.Asn others(5): Show p.Asn616fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1960/2387	1848/1977	616/658			chr10	TogoVar
AGAP9_chr10_47496854_47528638	47523471	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0027 a0002c0028 a0002c0002 a0002c0027 a0002c0028	a0002c0002t0002 a0002c0027t0002 a0002c0028t0003 a0002c0002t0002 a0002c0027t0002 a0002c0028t0003	a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 others(7): Show a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168 a0002c0028t0003g0176	12	206	0.0583	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	1/8	167/2387	55/1977	19/658			chr10	TogoVar
AICDA_chr12_8597170_8617859	8605412	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show HG01261.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp2 HG03225.hp2 HG03490.hp1 NA18941.hp1 NA18946.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp2 NA18985.hp1 NA19005.hp2 NA19056.hp2 NA19072.hp1 NA19083.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0004 a0007c0010 a0002c0003 a0002c0004 a0007c0010	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(5): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0023 a0002c0004t0001 a0002c0004t0008 a0007c0010t0003	a0002c0003t0001g0036 a0002c0003t0001g0045 a0002c0003t0001g0085 others(21): Show a0002c0003t0001g0036 a0002c0003t0001g0045 a0002c0003t0001g0085 a0002c0003t0001g0089 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0177 a0002c0003t0001g0238 a0002c0003t0001g0256 a0002c0003t0002g0183 a0002c0003t0002g0202 a0002c0003t0003g0035 a0002c0003t0010g0088 a0002c0003t0023g0288 a0002c0004t0001g0094 a0002c0004t0001g0102 a0002c0004t0001g0131 a0002c0004t0001g0159 a0002c0004t0001g0198 a0002c0004t0001g0203 a0002c0004t0001g0206 a0002c0004t0008g0127 a0002c0004t0008g0145 a0007c0010t0003g0144	27	458	0.0590	1	c.229 others(4): Show c.229dupC	p.Arg others(4): Show p.Arg77fs	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/5	321/2803	229/597	77/198			chr12	TogoVar
AIM2_chr1_159057484_159081766	159062694	A A	C C	stop_lost stop_lost	HIGH	HG02258.hp1 HG03225.hp2 HG03453.hp2 others(2): Show HG02258.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp2 NA21309.hp1	a0000 a0000	a0000c0004 a0000c0005 a0000c0004 a0000c0005	a0000c0004t0001 a0000c0004t0002 a0000c0005t0001 a0000c0004t0001 a0000c0004t0002 a0000c0005t0001	a0000c0004t0001g0110 a0000c0004t0001g0116 a0000c0004t0002g0165 others(2): Show a0000c0004t0001g0110 a0000c0004t0001g0116 a0000c0004t0002g0165 a0000c0005t0001g0146 a0000c0005t0001g0148	5	394	0.0127	0	c.103 others(4): Show c.1030T>G	p.Ter others(11): Show p.Ter344Gluext*?	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	6/6	1184/1394	1030/1032	344/343			chr1	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(370): 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 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017 a0018c0026 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009 a0018c0026t0014 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0022g0184 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133 a0018c0026t0014g0085 a0020c0028t0002g0180 a0021c0027t0002g0174	373	390	0.9564	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
ALG1L2_chr3_130076831_130103390	130096091	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18954.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0002c0004 a0002c0007 others(6): Show a0002c0002 a0002c0004 a0002c0007 a0002c0012 a0002c0015 a0002c0017 a0003c0005 a0003c0011 a0005c0009	a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 others(8): Show a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0002c0017t0001 a0003c0005t0001 a0003c0011t0001 a0005c0009t0001 a0005c0009t0005	a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0019 others(33): Show a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0004t0001g0011 a0002c0004t0001g0059 a0002c0004t0001g0127 a0002c0004t0002g0034 a0002c0007t0001g0081 a0002c0007t0001g0082 a0002c0012t0001g0072 a0002c0015t0001g0098 a0002c0017t0001g0101 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0011t0001g0036 a0003c0011t0001g0038 a0005c0009t0001g0150 a0005c0009t0005g0046	51	261	0.1954	-1	c.469 others(4): Show c.469delC	p.Leu others(5): Show p.Leu157fs	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	6/8	655/969	469/648	157/215		INFO_REALIGN_3_PRIME	chr3	TogoVar
ANKRD24_chr19_4177689_4229814	4217491	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00639.hp1 HG01243.hp1 others(15): Show HG00597.hp2 HG00639.hp1 HG01243.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG02056.hp1 HG02145.hp2 HG02300.hp2 HG02622.hp2 HG03225.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp1 NA18964.hp2 NA18967.hp2 NA19030.hp2 NA19068.hp1	a0007 a0012 a0015 others(5): Show a0007 a0012 a0015 a0019 a0027 a0028 a0030 a0031	a0007c0011 a0007c0041 a0007c0042 others(7): Show a0007c0011 a0007c0041 a0007c0042 a0012c0019 a0015c0025 a0019c0022 a0027c0050 a0028c0051 a0030c0053 a0031c0046	a0007c0011t0001 a0007c0011t0002 a0007c0041t0001 others(10): Show a0007c0011t0001 a0007c0011t0002 a0007c0041t0001 a0007c0042t0002 a0012c0019t0001 a0015c0025t0001 a0015c0025t0002 a0019c0022t0001 a0019c0022t0002 a0027c0050t0001 a0028c0051t0001 a0030c0053t0001 a0031c0046t0002	a0007c0011t0001g0016 a0007c0011t0001g0035 a0007c0011t0001g0065 others(15): Show a0007c0011t0001g0016 a0007c0011t0001g0035 a0007c0011t0001g0065 a0007c0011t0001g0191 a0007c0011t0002g0341 a0007c0041t0001g0213 a0007c0042t0002g0310 a0012c0019t0001g0061 a0012c0019t0001g0087 a0012c0019t0001g0232 a0015c0025t0001g0107 a0015c0025t0002g0235 a0019c0022t0001g0114 a0019c0022t0002g0337 a0027c0050t0001g0161 a0028c0051t0001g0145 a0030c0053t0001g0219 a0031c0046t0002g0305	18	356	0.0506	1	c.233 others(5): Show c.2336dupG	p.Gly others(5): Show p.Gly780fs	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	18/22	2425/3838	2337/3441	779/1146		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0014 a0017 a0025 a0027 a0028 a0032	a0003c0003 a0006c0008 a0006c0034 others(7): Show a0003c0003 a0006c0008 a0006c0034 a0007c0007 a0014c0014 a0017c0017 a0025c0057 a0027c0028 a0028c0056 a0032c0054	a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 others(8): Show a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 a0006c0034t0001 a0007c0007t0001 a0014c0014t0001 a0017c0017t0001 a0025c0057t0001 a0027c0028t0001 a0028c0056t0001 a0032c0054t0001	a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 others(44): Show a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0172 a0003c0003t0001g0181 a0006c0008t0001g0004 a0006c0008t0001g0005 a0006c0008t0001g0006 a0006c0008t0001g0007 a0006c0008t0001g0147 a0006c0008t0001g0148 a0006c0008t0009g0146 a0006c0034t0001g0173 a0007c0007t0001g0137 a0007c0007t0001g0138 a0007c0007t0001g0139 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0164 a0007c0007t0001g0180 a0007c0007t0001g0207 a0014c0014t0001g0150 a0014c0014t0001g0154 a0014c0014t0001g0155 a0014c0014t0001g0156 a0017c0017t0001g0145 a0017c0017t0001g0169 a0017c0017t0001g0170 a0025c0057t0001g0134 a0027c0028t0001g0161 a0028c0056t0001g0171 a0032c0054t0001g0165	47	212	0.2217	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97207905	TTTATTAT others(1859): Show TTTATTATTTCATTTGAAATTCCATTCAGGCTACAAGTGCCGAGAAAGAT TCTGTTTTGAATATAGCCAGAGGAAAAAAGTATGGAGAAAAAACTAAGAG AGGTAATTTTGAAAAGAGATTTAATGTCATGTTCAGTGCAGATAGATAAG AAGTTCTCTTCCCTGAATAAATCAGCGGGGGGCTCGTTGAAGCTGCACAT TCTGATTCAGCAGTCCTGAGATTCTTCATTTCAAATAAGTTCTTGGGTGA TGCTGATGCTGCTGGTCTGGAACATGATCTTCGCAGTAAGATTATACACT TCCCCACATTGAAATTGGGAAGAAGAATTATGGAGAGCAGTTCAAGGCAT AAGGGGCTCTGGGGAACAACATAATTTTGCTTTAATTCTCCAGCTTGTTT TCAGTAAGGGTGGAAGGAGAAAGAGAGGAAGTATAGAATTTACACACTTC AGCTCGTACTGCCAAGAAAAGACAGAAAGCTTGTTGTAACAACCCGTAGA CACTGTGGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAG GAAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATAT AATTTTGGAGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCA TTTGGAATATTTTCATAAAAAATATTTGCTTTTAGCTGCTCCAGGAACTA CTGGAAGCAGGAAACAGTGGTATAATTGGAATACACCACACTGACCCATT ACTCCTCTTGGTTACTAGGAGGCATCAGAGATACATGTTTTGTTGATTTT AGTTATAAAAATGAGATAATCTTGAATGTGAATAAATTTGCTTCCTTGTT CAAGGAGCTACCTCGTGGATAAAATAGCTATTTAATGTAACTTCTTTAGA GAATAACACGATACTCCCAACCAGACTATTTTAGACACAAGAATGATGTT GAATTCTAATTAACTCCTAAAATAGTCATTTTCAATGAATATTGCAGTGA TTTCTGAATGAAAAGCTGATTAATATCTAATGCTTGTAGCCATTTTACTT TGTAGACGTATGTCAAAGTTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCAAGAGTGGATGAAGAAGCTTTCGGAAGGCTA AACTAGTGGATACAAGAAACTTAGGCAAATTATTACACTACATGGGTGTG AAAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCAAGGT GATCAATTCAGGACACTTCCACTGAAGAGATGTGAAGTGTACTTTCAACT GGAGTGTCATTGTAATTGTGTGCCTTCTCATTTATTGGGCAAGTTAAAGA GCATGAAGAATGTTTGTAGTATAATGGTGTAAATCCTTTTGATTTGTTGC ATGAAAGACATATGGGATCATGTAGCACCTGTTTTGACATTGATTCTCAC GTATATGAGTTGTTCCTCTGATTTTAGATCACATTTGTCCTCATCACTCG GCATATCCACATTGAGATTGACACGGTTTTATTTTAGTTTTTGACACGTG ACAAATCATATAATGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT GTTCCCTTTTTCAGTGTATTTCTGTCATGTTCTGATCCCCAGACACAAAG TAGAAGCCATCAAAGCCTCCACTAATACAGGCAGGAGGACAGAGGTTGAT GCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATGTGAGT GATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCGGAAAAAACCAGCCT TGAAGGTAATGAAACTCTCATTCATATTGTGAGCTAGTAAACGTATAGCC TATGAAAGATACCTTAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show HG00099.hp1 HG00423.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18961.hp1 NA18991.hp2 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA20129.hp1 NA20129.hp2	a0002 a0004 a0011 others(7): Show a0002 a0004 a0011 a0018 a0020 a0021 a0030 a0035 a0043 a0044	a0002c0002 a0004c0005 a0004c0024 others(8): Show a0002c0002 a0004c0005 a0004c0024 a0011c0011 a0018c0018 a0020c0022 a0021c0021 a0030c0052 a0035c0062 a0043c0039 a0044c0038	a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0011c0011t0002 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0030c0052t0002 a0035c0062t0004 a0043c0039t0001 a0044c0038t0001	a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 others(46): Show a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0030c0052t0002g0128 a0035c0062t0004g0042 a0043c0039t0001g0008 a0044c0038t0001g0067	49	212	0.2311	-1866	c.319 others(15): Show c.3193-14_3295-15del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	54/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97264169	TAGCATTG others(84): Show TAGCATTGAATCTACTTATGAATACGGTACATATCTCTTTTTGTTTCATT CTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show HG00099.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0023 a0024 a0029 a0035 a0037 a0042 a0047 a0048 a0052	a0001c0001 a0001c0046 a0002c0002 others(20): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0018c0018 a0020c0022 a0021c0021 a0023c0019 a0024c0060 a0029c0055 a0035c0062 a0037c0040 a0042c0043 a0047c0033 a0048c0030 a0052c0026	a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 others(22): Show a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 a0004c0005t0004 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0023c0019t0003 a0024c0060t0002 a0029c0055t0002 a0035c0062t0004 a0037c0040t0002 a0042c0043t0002 a0047c0033t0002 a0048c0030t0002 a0052c0026t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(64): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0046t0002g0051 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0029c0055t0002g0023 a0035c0062t0004g0042 a0037c0040t0002g0211 a0042c0043t0002g0210 a0047c0033t0002g0025 a0048c0030t0002g0003 a0052c0026t0003g0193	67	212	0.3160	-91	c.7- others(100): Show c.7-65_*32delATTGAATCTACTTATGAATACGGTACATATCTCTTT TTGTTTCATTCTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTA AGAGC		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	76/76				14097	INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200634789	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	370	0.0027	0	c.222 others(6): Show c.2222-2A>G		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34						chr2	TogoVar
APOC3_chr11_116824907_116838072	116830897	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	450	0.0022	0	c.179 others(5): Show c.179+1G>T		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3						chr11	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): 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 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	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
ATP8B3_chr19_1777075_1817276	1783028	T T	C C	stop_lost stop_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0000 a0000	a0000c0020 a0000c0023 a0000c0027 others(15): Show a0000c0020 a0000c0023 a0000c0027 a0000c0029 a0000c0032 a0000c0035 a0000c0038 a0000c0040 a0000c0043 a0000c0046 a0000c0050 a0000c0054 a0000c0058 a0000c0059 a0000c0060 a0000c0063 a0000c0065 a0000c0071	a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 others(16): Show a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 a0000c0032t0007 a0000c0035t0007 a0000c0038t0007 a0000c0040t0008 a0000c0043t0008 a0000c0046t0008 a0000c0050t0008 a0000c0054t0007 a0000c0058t0008 a0000c0059t0017 a0000c0060t0007 a0000c0063t0007 a0000c0065t0007 a0000c0071t0007	a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 others(25): Show a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 a0000c0020t0008g0378 a0000c0023t0007g0036 a0000c0023t0007g0048 a0000c0023t0007g0106 a0000c0027t0008g0250 a0000c0027t0008g0263 a0000c0029t0007g0031 a0000c0029t0007g0052 a0000c0032t0007g0129 a0000c0032t0007g0130 a0000c0035t0007g0165 a0000c0035t0007g0166 a0000c0038t0007g0178 a0000c0038t0007g0179 a0000c0040t0008g0265 a0000c0043t0008g0247 a0000c0046t0008g0358 a0000c0050t0008g0236 a0000c0054t0007g0022 a0000c0058t0008g0379 a0000c0059t0017g0091 a0000c0060t0007g0135 a0000c0063t0007g0035 a0000c0065t0007g0136 a0000c0071t0007g0170	28	390	0.0718	0	c.390 others(4): Show c.3903A>G	p.Ter others(12): Show p.Ter1301Trpext*?	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	29/29	4142/5095	3903/3903	1301/1300			chr19	TogoVar
BRD4_chr19_15230519_15337539	15244475	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01109.hp1 HG01175.hp2 others(16): Show HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03942.hp2 NA18995.hp1 NA19009.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0003 a0002c0007 a0002c0018 others(7): Show a0002c0003 a0002c0007 a0002c0018 a0002c0022 a0002c0023 a0002c0031 a0005c0014 a0005c0019 a0005c0020 a0010c0029	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(14): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0017 a0002c0003t0038 a0002c0007t0003 a0002c0007t0033 a0002c0018t0018 a0002c0022t0049 a0002c0023t0016 a0002c0031t0059 a0005c0014t0002 a0005c0019t0001 a0005c0020t0025 a0010c0029t0010	a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 others(16): Show a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 a0002c0003t0005g0064 a0002c0003t0008g0200 a0002c0003t0008g0205 a0002c0003t0017g0016 a0002c0003t0038g0013 a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0002c0018t0018g0036 a0002c0022t0049g0029 a0002c0023t0016g0177 a0002c0031t0059g0129 a0005c0014t0002g0106 a0005c0019t0001g0076 a0005c0020t0025g0192 a0010c0029t0010g0074	19	208	0.0914	1	c.233 others(5): Show c.2336dupC	p.Pro others(5): Show p.Pro780fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	13/20	2620/7231	2336/4089	779/1362			chr19	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0002c0003t0001g0051 a0002c0003t0001g0052	80	440	0.1818	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
BRME1_chr19_13877348_13911117	13889358	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02572.hp2 HG02723.hp2 HG02818.hp1 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0041 a0005c0006t0002g0042 a0005c0006t0002g0044 others(1): Show a0005c0006t0002g0041 a0005c0006t0002g0042 a0005c0006t0002g0044 a0005c0006t0002g0045	4	322	0.0124	0	c.149 others(4): Show c.1498C>T	p.Gln others(4): Show p.Gln500*	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	6/9	1922/2885	1498/2007	500/668			chr19	TogoVar
BZW2_chr7_16641181_16711517	16682767	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18967.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0005t0001 a0001c0007t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(41): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0283 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0337 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0002g0363 a0001c0001t0002g0388 a0001c0001t0002g0403 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0282 a0001c0001t0004g0006 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0153 a0001c0001t0006g0377 a0001c0001t0008g0317 a0001c0001t0009g0110 a0001c0002t0003g0281 a0001c0005t0001g0026 a0001c0007t0002g0336	46	418	0.1101	1	c.340 others(6): Show c.340-3dupT		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
C12orf54_chr12_48477498_48501524	48494980	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show HG01099.hp1 HG01167.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102	37	436	0.0849	0	c.40 others(5): Show c.40+1G>A		C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding	8/8						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 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 HG01255.hp1 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 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.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 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.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 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6						chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	442	0.2127	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190			chr17	TogoVar
C1QTNF8_chr16_1083226_1101244	1093978	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show HG01109.hp2 HG01243.hp2 HG02647.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1 NA19240.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0009 a0000c0002t0009	a0000c0002t0009g0008 a0000c0002t0009g0159 a0000c0002t0009g0008 a0000c0002t0009g0159	9	396	0.0227	1	c.281 others(4): Show c.281dupG	p.Leu others(4): Show p.Leu95fs	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/5	555/3406	281/759	94/252			chr16	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0040 a0001c0001t0010g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	380	0.2026	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0015 a0003c0033 a0003c0012 a0003c0015 a0003c0033	a0003c0012t0001 a0003c0015t0001 a0003c0033t0001 a0003c0012t0001 a0003c0015t0001 a0003c0033t0001	a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 others(5): Show a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 a0003c0015t0001g0155 a0003c0015t0001g0156 a0003c0015t0001g0157 a0003c0015t0001g0163 a0003c0033t0001g0127	10	408	0.0245	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379			chr18	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01169.hp2 HG01243.hp2 HG02258.hp1 others(7): Show HG01169.hp2 HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG03225.hp2 HG03516.hp1 HG04115.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0021 a0001c0022 a0001c0024 a0001c0034	a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 a0001c0010t0001 a0001c0021t0002 a0001c0022t0001 a0001c0024t0001 a0001c0034t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0003t0001g0084 a0001c0005t0003g0055 a0001c0010t0001g0065 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0024t0001g0069 a0001c0034t0001g0086	10	118	0.0848	1	c.322 others(6): Show c.322-3dupT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show HG00408.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02896.hp1 HG03225.hp2 HG06807.hp1 NA18941.hp1 NA18981.hp2 NA18994.hp2 NA19002.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0040 a0001c0002t0002 a0001c0002t0015 a0001c0002t0017 a0001c0002t0057 a0001c0002t0060 a0002c0003t0013 a0002c0003t0052	a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0003g0193 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0040g0021 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0015g0018 a0001c0002t0015g0019 a0001c0002t0015g0020 a0001c0002t0017g0154 a0001c0002t0057g0151 a0001c0002t0060g0155 a0002c0003t0013g0022 a0002c0003t0052g0024	24	200	0.1200	14	c.121 others(26): Show c.121-16_121-3dupTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01071.hp2 HG01891.hp1 HG02572.hp1 others(4): Show HG01071.hp2 HG01891.hp1 HG02572.hp1 HG02647.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0048 a0001c0002t0002	a0001c0001t0001g0196 a0001c0001t0004g0161 a0001c0001t0006g0174 others(4): Show a0001c0001t0001g0196 a0001c0001t0004g0161 a0001c0001t0006g0174 a0001c0001t0007g0189 a0001c0001t0048g0195 a0001c0002t0002g0147 a0001c0002t0002g0179	7	200	0.0350	16	c.121 others(28): Show c.121-18_121-3dupTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN11_chr6_44153820_44189401	44172317	T T	TGGCTGCC TGGCTGCC	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show HG00323.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01934.hp1 HG02055.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0005 a0018 a0005 a0018	a0005c0006 a0005c0010 a0018c0021 a0005c0006 a0005c0010 a0018c0021	a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 others(3): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0010t0001 a0005c0010t0005 a0018c0021t0002	a0005c0006t0001g0209 a0005c0006t0001g0387 a0005c0006t0002g0210 others(18): Show a0005c0006t0001g0209 a0005c0006t0001g0387 a0005c0006t0002g0210 a0005c0006t0002g0211 a0005c0006t0002g0212 a0005c0006t0002g0224 a0005c0006t0002g0225 a0005c0006t0002g0288 a0005c0006t0002g0307 a0005c0006t0002g0429 a0005c0006t0002g0430 a0005c0006t0002g0431 a0005c0006t0003g0274 a0005c0006t0003g0294 a0005c0010t0001g0115 a0005c0010t0001g0127 a0005c0010t0001g0226 a0005c0010t0005g0038 a0005c0010t0005g0139 a0005c0010t0005g0227 a0018c0021t0002g0372	21	460	0.0457	7	c.426 others(14): Show c.426_432dupGGCTGCC	p.Ile others(5): Show p.Ile145fs	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	5/23	462/2718	433/2220	145/739		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASC3_chr17_40135537_40177171	40163475	T T	TTG TTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG01081.hp1 HG01109.hp2 others(19): Show HG00099.hp1 HG01081.hp1 HG01109.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0005 a0001c0001 a0001c0008 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0008t0002 a0004c0005t0005	a0001c0001t0001g0013 a0001c0001t0001g0232 a0001c0001t0001g0233 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0009g0110 a0001c0008t0002g0015 a0004c0005t0005g0014	22	266	0.0827	2	c.786 others(13): Show c.786-4_786-3dupGT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12						chr15	TogoVar
CBLC_chr19_44772890_44805652	44793589	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show HG00738.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2	a0000 a0000	a0000c0002 a0000c0004 a0000c0007 others(1): Show a0000c0002 a0000c0004 a0000c0007 a0000c0017	a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 others(1): Show a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 a0000c0017t0001	a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(41): Show a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 a0000c0002t0001g0034 a0000c0002t0001g0036 a0000c0002t0001g0037 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0044 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0002t0001g0077 a0000c0002t0001g0079 a0000c0002t0001g0127 a0000c0002t0001g0179 a0000c0002t0001g0188 a0000c0002t0001g0193 a0000c0002t0001g0201 a0000c0002t0001g0217 a0000c0002t0001g0218 a0000c0002t0001g0225 a0000c0002t0001g0256 a0000c0002t0001g0261 a0000c0002t0001g0262 a0000c0002t0001g0272 a0000c0004t0001g0058 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0001g0092 a0000c0004t0001g0093 a0000c0004t0001g0094 a0000c0004t0001g0095 a0000c0004t0001g0113 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0000c0007t0001g0051 a0000c0007t0001g0057 a0000c0017t0001g0114	47	344	0.1366	1	c.125 others(5): Show c.1255dupC	p.Gln others(5): Show p.Gln419fs	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/11	1298/1576	1256/1425	419/474		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 others(26): Show a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0016 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0004g0037 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0109 a0002c0003t0004g0111 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0115 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0120 a0002c0003t0004g0164 a0002c0003t0004g0165 a0002c0003t0004g0166 a0002c0003t0004g0179 a0002c0003t0006g0015 a0002c0003t0006g0137 a0002c0003t0006g0160 a0002c0003t0006g0161 a0008c0015t0012g0158	40	298	0.1342	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551			chr21	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(258): 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 homoSapiens_chm13v2.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(133): 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 a0001c0001t0005g0142 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	261	362	0.7210	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5						chr14	TogoVar
CCHCR1_chr6_31137439_31162802	31157072	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(8): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0027	a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0167 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0175 a0001c0009t0005g0061 a0001c0009t0005g0174 a0001c0009t0005g0176 a0001c0011t0001g0021 a0001c0011t0001g0031 a0001c0011t0001g0111 a0001c0011t0001g0112 a0001c0011t0001g0113 a0001c0011t0001g0114 a0001c0014t0001g0013 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0019t0001g0131 a0001c0019t0001g0137 a0001c0025t0001g0115 a0001c0026t0001g0125 a0001c0027t0001g0144	187	455	0.4110	0	c.234 others(3): Show c.234G>A	p.Trp others(3): Show p.Trp78*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	2/18	436/2971	234/2616	78/871			chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31157480	C C	A A	stop_gained stop_gained	HIGH	HG00423.hp1 HG00733.hp1 HG00741.hp1 others(20): Show HG00423.hp1 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp2 HG01346.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG03225.hp1 NA18747.hp1 NA18747.hp2 NA18965.hp1 NA18975.hp2 NA18983.hp2 NA20129.hp1 NA20300.hp1	a0007 a0007	a0007c0013 a0007c0016 a0007c0018 others(4): Show a0007c0013 a0007c0016 a0007c0018 a0007c0022 a0007c0023 a0007c0024 a0007c0034	a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 others(5): Show a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0018t0003 a0007c0022t0003 a0007c0023t0003 a0007c0024t0003 a0007c0034t0003	a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 others(10): Show a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0018t0003g0103 a0007c0018t0003g0106 a0007c0018t0003g0109 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0024t0003g0102 a0007c0024t0003g0108 a0007c0034t0003g0104	23	455	0.0506	0	c.121 others(3): Show c.121G>T	p.Glu others(3): Show p.Glu41*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	1/18	323/2971	121/2616	41/871			chr6	TogoVar
CCL20_chr2_227808842_227822556	227815437	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 a0001c0001t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0003g0010 a0003c0005t0001g0023	30	448	0.0670	1	c.77- others(5): Show c.77-3dupT		CCL20	ENSG00000115009.13	transcript	ENST00000358813.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
CD200R1L_chr3_112810711_112851864	112837703	GAAGGTGC others(534): Show GAAGGTGCTGTAAGTTTTCTTCTTTTTAGCTTCTATTTTTGTGTGCTACT AAGAAATCTACATGTTTGCTTTTTGTTGTTGAATTAAATTGAATAAGTCG GTCCTTGCTTGGTCTTCAAGCAATAGTGTGCAGAGAGGTATCTGTTAAAA TTGCACACAGGACAAATGATCATGTAAATGTTTCTGCTGATGATCCAACC CTCCCATCAAACTGGTTATTAAGTAAGTGAGCATTTTACCTTCATTAAGA CGTATTCTCTAACTTTGTATTTCCAGTTGTGTCATCAGACAGGAATTATT ATCTGAGGCTAGAAAATATTTAAAGAAGAAATATGGAGAAAATTAAGAAC TTTTCTTTACTGAAATGGACTAGAATCCACTGATTTCATATAAGATAATC ACAGAAAACAACATTTCAATTCCTTAAATTAATTAATAATCACACCAAAA AAACCTCTACATAAAAGAAATCAGCAGTGAGACCATAACTAGATAAATGC ACGTATGTCAGGATTTTGACATTTCTTTTGTAGTTATGAATA	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show HG01106.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135 a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135	7	408	0.0172	-541	c.-86 others(15): Show c.-86-234_-18+238del		CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	3/8						chr3	TogoVar
CD8B2_chr2_106482364_106516095	106502564	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02818.hp1 HG03225.hp1 HG03471.hp1 others(2): Show HG02818.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109 a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109	5	350	0.0143	0	c.583 others(5): Show c.583+1G>A		CD8B2	ENSG00000254126.8	transcript	ENST00000643224.2	protein_coding	4/5						chr2	TogoVar
CEACAM21_chr19_41571166_41591844	41585872	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02145.hp2 HG02258.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 NA20129.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0010 a0004c0004 a0010c0010	a0004c0004t0001 a0010c0010t0001 a0004c0004t0001 a0010c0010t0001	a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 others(3): Show a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 a0004c0004t0001g0084 a0004c0004t0001g0086 a0010c0010t0001g0060	10	393	0.0255	0	c.882 others(5): Show c.882+1G>A		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6						chr19	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show HG01099.hp1 HG01106.hp1 HG01433.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG03225.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18941.hp1 NA18950.hp2 NA18966.hp2 NA19006.hp2 NA19054.hp2 NA19079.hp1 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0063 a0001c0065 a0001c0067 others(12): Show a0001c0063 a0001c0065 a0001c0067 a0008c0011 a0008c0024 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0105 a0008c0106 a0008c0107 a0008c0108 a0008c0109 a0008c0182	a0001c0063t0001 a0001c0065t0001 a0001c0067t0001 others(12): Show a0001c0063t0001 a0001c0065t0001 a0001c0067t0001 a0008c0011t0001 a0008c0024t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0105t0001 a0008c0106t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001	a0001c0063t0001g0003 a0001c0065t0001g0001 a0001c0067t0001g0003 others(14): Show a0001c0063t0001g0003 a0001c0065t0001g0001 a0001c0067t0001g0003 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0105t0001g0001 a0008c0106t0001g0003 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030	20	416	0.0481	-32	c.184 others(41): Show c.1843_1874delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753		INFO_REALIGN_3_PRIME	chr9	TogoVar

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