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	status	chr	external
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.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 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 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 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.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 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.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.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0005c0014t0001g0001	336	384	0.8750	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0000 a0000	a0000c0002 a0000c0006 a0000c0016 others(5): Show a0000c0002 a0000c0006 a0000c0016 a0000c0027 a0000c0038 a0000c0039 a0000c0040 a0000c0043	a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 others(9): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 a0000c0002t0011 a0000c0006t0001 a0000c0006t0002 a0000c0016t0002 a0000c0027t0002 a0000c0038t0003 a0000c0039t0015 a0000c0040t0002 a0000c0043t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 others(9): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 a0000c0002t0011g0000 a0000c0006t0001g0000 a0000c0006t0002g0000 a0000c0016t0002g0000 a0000c0027t0002g0000 a0000c0038t0003g0000 a0000c0039t0015g0000 a0000c0040t0002g0000 a0000c0043t0001g0000	108	452	0.2389	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0022 a0002c0002 a0002c0008 a0002c0022	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(13): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0008t0010 a0002c0022t0003	a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 others(51): Show a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0139 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0017 a0002c0002t0005g0022 a0002c0002t0005g0046 a0002c0002t0005g0072 a0002c0002t0005g0101 a0002c0002t0005g0111 a0002c0002t0008g0013 a0002c0002t0008g0019 a0002c0002t0008g0033 a0002c0002t0008g0054 a0002c0002t0011g0013 a0002c0002t0011g0041 a0002c0002t0011g0080 a0002c0002t0011g0086 a0002c0002t0012g0019 a0002c0002t0012g0038 a0002c0002t0012g0059 a0002c0002t0014g0038 a0002c0002t0014g0041 a0002c0002t0014g0102 a0002c0002t0015g0013 a0002c0002t0015g0019 a0002c0002t0015g0033 a0002c0002t0020g0008 a0002c0002t0020g0021 a0002c0002t0021g0004 a0002c0002t0021g0021 a0002c0002t0022g0055 a0002c0002t0022g0056 a0002c0002t0033g0127 a0002c0002t0034g0124 a0002c0002t0035g0058 a0002c0002t0036g0057 a0002c0008t0010g0014 a0002c0022t0003g0099	91	394	0.2310	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	382	0.1204	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467		chr3	TogoVar
GAL3ST3_chr11_66035765_66054161	66043477	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp1 HG02145.hp2 HG02572.hp1 HG03669.hp2 NA18906.hp1 NA18954.hp2 NA18956.hp1 NA18982.hp2 NA18985.hp2 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19067.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0005 a0003c0015 a0003c0016 others(2): Show a0003c0005 a0003c0015 a0003c0016 a0004c0008 a0006c0013	a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 others(5): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 a0003c0015t0005 a0003c0016t0003 a0004c0008t0005 a0004c0008t0021 a0006c0013t0004	a0003c0005t0001g0017 a0003c0005t0001g0062 a0003c0005t0002g0016 others(11): Show a0003c0005t0001g0017 a0003c0005t0001g0062 a0003c0005t0002g0016 a0003c0005t0002g0039 a0003c0005t0002g0051 a0003c0005t0002g0061 a0003c0005t0002g0063 a0003c0005t0005g0052 a0003c0015t0005g0043 a0003c0016t0003g0053 a0004c0008t0005g0026 a0004c0008t0005g0041 a0004c0008t0021g0042 a0006c0013t0004g0027	22	394	0.0558	1	c.325 others(4): Show c.325dupC	p.Arg others(5): Show p.Arg109fs	GAL3ST3	ENSG00000175229.7	transcript	ENST00000312006.5	protein_coding	3/3	588/3301	325/1296	109/431		chr11	TogoVar
GBP3_chr1_89001680_89027866	89010225	GATTCTCC others(2709): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCCTGCCA CCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGTT AACTAGTATTTGAAAGACAGGGTCTGGCTCTGTTGCCCAGGCCAGAGTGC TGAGGTGCAATCTTGGCTCACTGAACCTCCCGGGCTCAAGCAATTCTCCT GCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGTGCAACAGTGCCCA GCTAATTTTTATATTCTTACTAGAGACATGTTTCACCATGTTGCTCAGGC TGGTCTTAAACTCCTGAGCTCAAGCAATCTGCCTGCCTCTGCCCTCAAAG TGTTAGGATTACAGGCTTGAGCCACCGCACCCGCCGACTGCACTCTCTTT GATGAGCACCTGGGACATACCTGATATAACAGTCTCCCTCCCTGCATATG TTATTGAATGAAAGCATGAATGTTATACAGACAAAAAAGCACATCTGTGT GCAGTGAAGCTTGGTCACTTTGGTGTTCGTAGGAGGTAGGTCAGCAGGTT TCCATAATCGACAGATGAATCTTGGTTACCTGTATCCCCTTCCTTGGTTC CTCATAGTACTTTTTCTCCAGGTCTTGTAGCTTCTGAATAAAGAGACAAT AGCCCCCTGGTTTCGAATAAATTCCCGCCTTCACTTCTTCTTCTAGAGGA CTGAAAATGACCTGAAGTAAAGCTGAGCAACGATCTGATGATGCTTCTTG ATTCTGTTTACAAAAGTCATCCCGCTTTTTGTCTAGCTGGGCCTTTAATG TAAAAATAGGAAGTAAAAAGAGTAACAGGGAAAGGATGTTAGCTTGACCT CAGAATTTTGGGAAAGACTTCCGAAAATAAACAGTCAATGATGCCGGAGA AACTGACAGACTCCTCAGCAGGACCACGCTCTTACTCCTGACCCCACTTT CTACTGAAATCGCTTTCTCTTTAGAGGTGAGGTTCAGGGCTGAGATTGAC AGCTTTATGTCAACTGTTAGAGGAAAGCTCTGCTTTTGCATATTGGACTA ATGATTTCATATGGAATAAATGTGGCTGAACAGAAGCCTGCTCAAGATAA CTAAGATGAAAATTTTCTTTGCATTTGGCTAGAATATCAAATCAGTCTGA GAAGAGTGGGCATGTAATTTGATTAGAAGCCCTGATTGTCAGTTATATGA ATTTAATAAAGGGAAGACCATTTATTGATAAGCAATGTTTTTAAACTTTG AGTCTGAAGTAATAAAATTGTTTTTGTCTGATTATTATGATTACCAAGAA CTAGTTGTCACCATTTTAAAATCTAGAATAATTATTTGTCTCAAAATAAA TACCAATTTCATTTCTTAGTAGTACTTTGCCTTCCAAAATCCAAATCCAT GTAAATGTGATAGAAAAATTACCGCTAATTTCTTTTGAAACAGATGGTCC ACATCCTTGAAAGAGTTCTTCATATAGACTTCAGTGGCCTCCCTCTCACT AACCCTGTGCAGGTCCAGCAGCTCCTGGAGGGTTTCTGCGGGCAGCTGCA CCTTCTGGCCCATCTGCTGGTCATAGTGGGCAATAGCCTTTTGCACTGCG GCTGAGTTCTCTATCTGGGCCAAGGCCAGGACTGCGTTCTCCATGCAGGG CAGATCCCCTCTGCTGATAGCATTGATATAGGTCAGCACTAGGCTCTCTA GACCTACATACAAAGAAGAAATGATAATGTTTCTTGTACTAAAGAAAACT CTCTATTCTGTGTAATTCTGAACATGTCAATTTCCACCTATTTTCCTCAC AGCATCAAGGTCCTCAGAATCATCTGGAAGCTTGCTGGAAATGCCTATTG TTAGCCTCTGTCCCAGATCTACTGAATTAGAGTTTTTTCTTTGGGTAAGA TCCCTAGATGATATGTATGCATATCAACATTTGAGAATCCTTGTTCTAGA TGACCTAGTCCTGTGTTAGTTGAATGTTTGCATCCATTTCAACCCCAAGC ACCATCAGGAAAGGAACCCATAGCTATTCCATATATGACTGTATCCTCAG CTTATTCACAGTAGCATTTGATCAATACTTATGGAACAAATGATACTCTC CTAATCAAAAGGAGCCCTCCGTTTGGTTTATTTTAGCACAGCATTGTCCA AGAAAACTTTCTGTAATGGTGGAAGTGTTCTGTATGTGCTGTTCAGTATG CTAGCCACTAAGTACATGTAAATATAAGCCTTTGAAATATAGCCATGTGA ATTGACCTTTAATTTTTCCTTATTTTAATTAATTTACATTTACATTTAGA TAGCCCCACTTGTCTAGTGGCTACTGTACTGTACAGTGCAGGCCCAGTTT ACTGTGGCAATTTTAAGTAATAAAACTTTTTTCCTTTGCTTTTCCTATCT TTTCCCACCAAGAAGGTTGACCAACAAAATCTATTAGAAATGTTGGTGTC ATCTAGAATTTAGCACAAATGTAGCAGTAGATTGGGATTTTTCAATGCTG ATACTAGGTGGAGTTATTCTATGCTCCTTTCATATTTTTTTTTTCCTCTG TCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGTCTCACTGCAACCTCTG CCTCCCAGGTTCAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0016 a0018 a0002 a0016 a0018	a0002c0002 a0016c0013 a0018c0020 a0002c0002 a0016c0013 a0018c0020	a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 others(2): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0016c0013t0003 a0018c0020t0003	a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 others(67): Show a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0063 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0006g0014 a0002c0002t0006g0040 a0002c0002t0006g0041 a0002c0002t0006g0167 a0002c0002t0006g0204 a0002c0002t0006g0213 a0002c0002t0006g0216 a0002c0002t0006g0217 a0002c0002t0009g0166 a0002c0002t0009g0206 a0002c0002t0009g0222 a0016c0013t0003g0201 a0018c0020t0003g0205	82	436	0.1881	-2716	c.868 others(16): Show c.868+244_1362+678del		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	8/11					chr1	TogoVar
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0010	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0010c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0010c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0070 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0010c0010t0003g0086	84	350	0.2400	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520		chr11	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0004c0004 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0008t0003 a0001c0008t0007 a0001c0012t0002 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0017 a0004c0004t0018 a0004c0004t0029 a0004c0004t0030 a0004c0004t0031 a0004c0004t0032 a0004c0004t0033 a0008c0009t0001 a0008c0009t0006	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(87): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0012t0002g0115 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 a0004c0004t0011g0163 a0004c0004t0012g0007 a0004c0004t0012g0009 a0004c0004t0012g0130 a0004c0004t0012g0177 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0016g0028 a0004c0004t0017g0015 a0004c0004t0017g0053 a0004c0004t0018g0152 a0004c0004t0029g0118 a0004c0004t0030g0149 a0004c0004t0031g0117 a0004c0004t0032g0004 a0004c0004t0033g0006 a0008c0009t0001g0112 a0008c0009t0006g0081	90	210	0.4286	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GJB4_chr1_34754740_34767327	34761404	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02258.hp1 HG02647.hp1 others(7): Show HG01109.hp1 HG02258.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0008 a0005c0009 a0005c0006 a0005c0008 a0005c0009	a0005c0006t0001 a0005c0006t0004 a0005c0008t0001 others(1): Show a0005c0006t0001 a0005c0006t0004 a0005c0008t0001 a0005c0009t0001	a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0008t0001g0002 others(1): Show a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0008t0001g0002 a0005c0009t0001g0002	10	462	0.0217	-1	c.153 others(4): Show c.153delT	p.Phe others(4): Show p.Phe51fs	GJB4	ENSG00000189433.7	transcript	ENST00000339480.3	protein_coding	2/2	524/1444	153/801	51/266	INFO_REALIGN_3_PRIME	chr1	TogoVar
GJB4_chr1_34754740_34767327	34761492	C C	T T	stop_gained stop_gained	HIGH	HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show HG01109.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0009 a0005c0006 a0005c0009	a0005c0006t0001 a0005c0006t0004 a0005c0009t0001 a0005c0006t0001 a0005c0006t0004 a0005c0009t0001	a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002 a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002	8	462	0.0173	0	c.238 others(3): Show c.238C>T	p.Gln others(3): Show p.Gln80*	GJB4	ENSG00000189433.7	transcript	ENST00000339480.3	protein_coding	2/2	609/1444	238/801	80/266		chr1	TogoVar
GML_chr8_142829801_142851851	142841226	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp2 HG02965.hp1 HG03209.hp1 HG01109.hp2 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0002 a0001c0004t0003 a0001c0001t0009 a0001c0004t0002 a0001c0004t0003	a0001c0001t0009g0121 a0001c0004t0002g0120 a0001c0004t0003g0119 a0001c0001t0009g0121 a0001c0004t0002g0120 a0001c0004t0003g0119	3	422	0.0071	0	c.181 others(5): Show c.181+1G>A		GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding	3/3					chr8	TogoVar
GNLY_chr2_85689358_85703852	85694429	G G	A A	stop_gained stop_gained	HIGH	HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show HG00735.hp2 HG01109.hp2 HG02572.hp1 HG02818.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0020 a0003c0003t0003g0007 a0003c0003t0003g0020	8	398	0.0201	0	c.11G others(2): Show c.11G>A	p.Trp others(2): Show p.Trp4*	GNLY	ENSG00000115523.17	transcript	ENST00000263863.9	protein_coding	1/5	72/777	11/438	4/145		chr2	TogoVar
GNRH2_chr20_3038622_3050747	3045699	A A	AGCCCC AGCCCC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0001 a0000c0002t0002	a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 others(1): Show a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 a0000c0002t0002g0020	101	446	0.2265	5	c.319 others(12): Show c.319_323dupCCGCC	p.Ser others(5): Show p.Ser109fs	GNRH2	ENSG00000125787.11	transcript	ENST00000359100.6	protein_coding	4/4	375/404	324/342	108/113	INFO_REALIGN_3_PRIME	chr20	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(7): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG01981.hp2 HG02698.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 others(2): Show a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092	10	396	0.0253	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0005 a0012 a0013 a0014 a0015 a0016 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0001c0001 a0001c0018 a0001c0029 others(20): Show a0001c0001 a0001c0018 a0001c0029 a0001c0033 a0001c0048 a0001c0058 a0001c0059 a0001c0060 a0003c0007 a0004c0006 a0005c0009 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0018t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0003c0007t0001 a0003c0007t0009 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0018t0001g0022 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0003c0007t0001g0007 a0003c0007t0009g0036 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	216	396	0.5455	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 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.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 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.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 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 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(22): Show a0000 a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0000c0051 a0001c0001 a0001c0003 others(52): Show a0000c0051 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0007c0028 a0008c0026 a0010c0030 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 others(65): Show a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0010c0030t0019 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 others(92): Show a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0010c0030t0019g0060 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	287	396	0.7248	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): 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 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.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 HG01168.hp1 HG01168.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 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 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 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.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 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 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 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 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 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.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 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.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 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 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.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	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030	a0000c0002 a0000c0004 a0000c0010 others(74): Show a0000c0002 a0000c0004 a0000c0010 a0000c0016 a0000c0022 a0000c0023 a0000c0024 a0000c0025 a0000c0034 a0000c0037 a0000c0038 a0000c0044 a0000c0051 a0000c0075 a0000c0078 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0008 a0002c0011 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0006c0032 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0027c0039 a0028c0035 a0030c0079	a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 others(95): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 a0000c0002t0017 a0000c0004t0002 a0000c0004t0005 a0000c0010t0002 a0000c0010t0011 a0000c0016t0006 a0000c0022t0006 a0000c0023t0002 a0000c0024t0006 a0000c0025t0002 a0000c0034t0002 a0000c0037t0002 a0000c0038t0002 a0000c0044t0002 a0000c0051t0001 a0000c0075t0005 a0000c0078t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0027c0039t0007 a0028c0035t0004 a0030c0079t0001	a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 others(132): Show a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 a0000c0002t0002g0114 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0005g0025 a0000c0002t0011g0039 a0000c0002t0017g0115 a0000c0004t0002g0009 a0000c0004t0002g0014 a0000c0004t0002g0028 a0000c0004t0005g0121 a0000c0010t0002g0015 a0000c0010t0011g0131 a0000c0016t0006g0031 a0000c0016t0006g0051 a0000c0022t0006g0042 a0000c0023t0002g0041 a0000c0024t0006g0030 a0000c0025t0002g0029 a0000c0034t0002g0119 a0000c0037t0002g0120 a0000c0038t0002g0122 a0000c0044t0002g0053 a0000c0051t0001g0067 a0000c0075t0005g0108 a0000c0078t0006g0052 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0027c0039t0007g0124 a0028c0035t0004g0116 a0030c0079t0001g0137	391	396	0.9874	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240654	G G	T T	stop_gained stop_gained	HIGH	HG01109.hp1 HG01255.hp1 HG01261.hp1 others(9): Show HG01109.hp1 HG01255.hp1 HG01261.hp1 HG02135.hp2 HG02257.hp1 HG02630.hp2 HG02818.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03704.hp1 NA19240.hp2	a0007 a0034 a0044 others(2): Show a0007 a0034 a0044 a0048 a0050	a0007c0014 a0007c0028 a0007c0029 others(4): Show a0007c0014 a0007c0028 a0007c0029 a0034c0042 a0044c0050 a0048c0039 a0050c0063	a0007c0014t0013 a0007c0014t0043 a0007c0028t0011 others(6): Show a0007c0014t0013 a0007c0014t0043 a0007c0028t0011 a0007c0028t0033 a0007c0029t0020 a0034c0042t0007 a0044c0050t0008 a0048c0039t0032 a0050c0063t0008	a0007c0014t0013g0011 a0007c0014t0043g0011 a0007c0028t0011g0013 others(6): Show a0007c0014t0013g0011 a0007c0014t0043g0011 a0007c0028t0011g0013 a0007c0028t0033g0073 a0007c0029t0020g0022 a0034c0042t0007g0059 a0044c0050t0008g0082 a0048c0039t0032g0032 a0050c0063t0008g0065	12	251	0.0478	0	c.130 others(4): Show c.1300G>T	p.Glu others(4): Show p.Glu434*	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1362/4553	1300/1725	434/574		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0010 others(13): Show a0001 a0006 a0010 a0011 a0014 a0015 a0017 a0018 a0022 a0029 a0030 a0031 a0032 a0036 a0040 a0043	a0001c0001 a0001c0005 a0001c0019 others(23): Show a0001c0001 a0001c0005 a0001c0019 a0001c0034 a0001c0035 a0001c0038 a0001c0039 a0001c0047 a0006c0011 a0006c0016 a0010c0013 a0010c0029 a0011c0010 a0014c0015 a0015c0017 a0017c0041 a0017c0042 a0018c0020 a0022c0024 a0029c0046 a0030c0045 a0031c0036 a0032c0037 a0036c0040 a0040c0051 a0043c0055	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0005t0004 a0001c0005t0017 a0001c0019t0001 a0001c0034t0001 a0001c0035t0001 a0001c0038t0016 a0001c0039t0001 a0001c0047t0001 a0006c0011t0001 a0006c0011t0004 a0006c0011t0024 a0006c0016t0004 a0010c0013t0007 a0010c0029t0007 a0011c0010t0001 a0014c0015t0007 a0015c0017t0009 a0017c0041t0001 a0017c0042t0001 a0018c0020t0004 a0022c0024t0007 a0029c0046t0001 a0030c0045t0001 a0031c0036t0001 a0032c0037t0001 a0036c0040t0018 a0040c0051t0012 a0043c0055t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0004g0064 a0001c0001t0014g0075 a0001c0001t0015g0077 a0001c0001t0020g0079 a0001c0005t0004g0005 a0001c0005t0004g0091 a0001c0005t0017g0092 a0001c0019t0001g0059 a0001c0019t0001g0071 a0001c0034t0001g0073 a0001c0035t0001g0076 a0001c0038t0016g0078 a0001c0039t0001g0081 a0001c0047t0001g0086 a0006c0011t0001g0112 a0006c0011t0004g0110 a0006c0011t0004g0121 a0006c0011t0024g0113 a0006c0016t0004g0026 a0006c0016t0004g0114 a0010c0013t0007g0012 a0010c0029t0007g0053 a0011c0010t0001g0010 a0014c0015t0007g0013 a0015c0017t0009g0039 a0015c0017t0009g0040 a0017c0041t0001g0069 a0017c0042t0001g0072 a0018c0020t0004g0088 a0018c0020t0004g0089 a0022c0024t0007g0032 a0029c0046t0001g0085 a0030c0045t0001g0084 a0031c0036t0001g0062 a0032c0037t0001g0065 a0036c0040t0018g0087 a0040c0051t0012g0120 a0043c0055t0004g0122	94	214	0.4393	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724		chr15	TogoVar
GPR173_chrX_53043789_53085615	53077326	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG01433.hp1 HG01109.hp1 HG01433.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0022 a0002c0004t0001 a0002c0004t0022	a0002c0004t0001g0112 a0002c0004t0022g0085 a0002c0004t0001g0112 a0002c0004t0022g0085	2	208	0.0096	1	c.709 others(4): Show c.709dupG	p.Ala others(5): Show p.Ala237fs	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	2/2	1503/4787	710/1122	237/373	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR31_chr6_167150247_167162980	167157731	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02145.hp2 HG03098.hp2 others(3): Show HG01109.hp1 HG02145.hp2 HG03098.hp2 NA18988.hp2 NA18993.hp1 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0009	a0002c0003t0001g0000 a0002c0003t0002g0000 a0002c0003t0004g0000 others(2): Show a0002c0003t0001g0000 a0002c0003t0002g0000 a0002c0003t0004g0000 a0002c0003t0005g0000 a0002c0003t0009g0000	6	442	0.0136	1	c.100 others(4): Show c.100dupG	p.Val others(4): Show p.Val34fs	GPR31	ENSG00000120436.4	transcript	ENST00000366834.2	protein_coding	1/1	249/2734	100/960	34/319		chr6	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): 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 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 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 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 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.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 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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 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 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.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 HG04199.hp1 HG04199.hp2 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 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.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 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.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 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPRC6A_chr6_116787085_116834083	116792598	A A	AGGT AGGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show HG00099.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA19030.hp1 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0003 a0005 a0015 others(1): Show a0003 a0005 a0015 a0017	a0003c0003 a0005c0005 a0005c0015 others(3): Show a0003c0003 a0005c0005 a0005c0015 a0005c0028 a0015c0023 a0017c0025	a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 others(3): Show a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0015c0023t0001 a0017c0025t0001	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0166 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0255 a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262 a0015c0023t0001g0083 a0017c0025t0001g0252	60	368	0.1630	3	c.232 others(12): Show c.2324_2325insACC	p.Tyr others(15): Show p.Tyr775delinsTerPro	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	6/6	2394/2908	2324/2781	775/926		chr6	TogoVar
GPRC6A_chr6_116787085_116834083	116828845	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG01106.hp1 HG01109.hp1 others(22): Show HG00099.hp1 HG01106.hp1 HG01109.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02257.hp2 HG02273.hp1 HG02451.hp2 HG02630.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG04199.hp1 NA18522.hp1 NA18957.hp2 NA19066.hp2 NA19081.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0005 a0005	a0005c0005 a0005c0015 a0005c0028 a0005c0005 a0005c0015 a0005c0028	a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001	a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 others(13): Show a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262	25	368	0.0679	0	c.169 others(3): Show c.169C>T	p.Arg others(3): Show p.Arg57*	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	1/6	239/2908	169/2781	57/926		chr6	TogoVar
GRIN2C_chr17_74837023_74864885	74850238	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 NA18944.hp2 NA18966.hp1 others(2): Show HG01109.hp2 NA18944.hp2 NA18966.hp1 NA18997.hp1 NA19057.hp1	a0006 a0006	a0006c0016 a0006c0031 a0006c0033 others(1): Show a0006c0016 a0006c0031 a0006c0033 a0006c0035	a0006c0016t0001 a0006c0031t0001 a0006c0033t0001 others(1): Show a0006c0016t0001 a0006c0031t0001 a0006c0033t0001 a0006c0035t0001	a0006c0016t0001g0151 a0006c0016t0001g0152 a0006c0031t0001g0150 others(2): Show a0006c0016t0001g0151 a0006c0016t0001g0152 a0006c0031t0001g0150 a0006c0033t0001g0045 a0006c0035t0001g0088	5	360	0.0139	1	c.145 others(10): Show c.1458_1459insT	p.Val others(5): Show p.Val487fs	GRIN2C	ENSG00000161509.14	transcript	ENST00000293190.10	protein_coding	6/13	1615/4271	1458/3702	486/1233		chr17	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0008c0009t0001	a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 others(106): Show a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0076 a0002c0002t0001g0115 a0002c0002t0001g0232 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0006 a0003c0003t0001g0011 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0082 a0003c0003t0001g0087 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0146 a0003c0003t0001g0327 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0347 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0004c0005t0001g0033 a0004c0005t0001g0233 a0004c0005t0001g0234 a0004c0005t0001g0261 a0004c0005t0001g0263 a0004c0005t0001g0264 a0005c0006t0001g0155 a0006c0007t0001g0062 a0006c0007t0001g0067 a0006c0007t0001g0113 a0007c0008t0001g0270 a0007c0008t0001g0273 a0008c0009t0001g0237 a0008c0009t0001g0238	110	374	0.2941	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3					chr3	TogoVar
H1-8_chr3_129538175_129556467	129547457	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show HG01109.hp2 HG01175.hp2 HG01433.hp2 HG01496.hp2 HG02055.hp2 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp2 NA18941.hp2 NA19011.hp1 NA19062.hp2 NA19083.hp1 NA19083.hp2	a0005 a0007 a0009 a0005 a0007 a0009	a0005c0007 a0005c0019 a0005c0020 others(3): Show a0005c0007 a0005c0019 a0005c0020 a0007c0017 a0007c0018 a0009c0014	a0005c0007t0001 a0005c0007t0003 a0005c0019t0001 others(4): Show a0005c0007t0001 a0005c0007t0003 a0005c0019t0001 a0005c0020t0001 a0007c0017t0001 a0007c0018t0001 a0009c0014t0001	a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0004 others(10): Show a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0004 a0005c0007t0001g0005 a0005c0007t0001g0017 a0005c0007t0001g0099 a0005c0007t0001g0109 a0005c0007t0003g0001 a0005c0019t0001g0006 a0005c0020t0001g0002 a0007c0017t0001g0024 a0007c0018t0001g0008 a0009c0014t0001g0003	15	422	0.0356	1	c.161 others(4): Show c.161dupC	p.Val others(4): Show p.Val55fs	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding	2/5	206/1212	162/1041	54/346	INFO_REALIGN_3_PRIME	chr3	TogoVar
HIBCH_chr2_190198920_190324826	190319749	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19010.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0009 a0004c0004 a0003c0003 a0003c0009 a0004c0004	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0009t0003 a0004c0004t0005	a0003c0003t0002g0194 a0003c0003t0002g0198 a0003c0003t0002g0202 others(99): Show a0003c0003t0002g0194 a0003c0003t0002g0198 a0003c0003t0002g0202 a0003c0003t0003g0002 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0005g0006 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0005g0181 a0003c0003t0005g0182 a0003c0003t0005g0183 a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0186 a0003c0003t0005g0187 a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0192 a0003c0003t0005g0193 a0003c0003t0005g0195 a0003c0003t0005g0196 a0003c0003t0005g0197 a0003c0003t0005g0203 a0003c0003t0005g0204 a0003c0003t0007g0011 a0003c0003t0007g0021 a0003c0003t0007g0031 a0003c0003t0007g0037 a0003c0003t0009g0055 a0003c0003t0009g0056 a0003c0003t0013g0043 a0003c0003t0014g0178 a0003c0003t0017g0205 a0003c0003t0020g0354 a0003c0009t0003g0076 a0004c0004t0005g0199 a0004c0004t0005g0200 a0004c0004t0005g0201	104	368	0.2826	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/14	78/2434	2/1161	1/386		chr2	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0000 a0006 a0008 others(10): Show a0000 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0025 a0028 a0029	a0000c0009 a0000c0012 a0000c0018 others(15): Show a0000c0009 a0000c0012 a0000c0018 a0000c0019 a0000c0035 a0000c0037 a0006c0006 a0008c0008 a0009c0010 a0011c0013 a0012c0014 a0013c0015 a0014c0020 a0015c0022 a0016c0021 a0025c0031 a0028c0036 a0029c0034	a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 others(18): Show a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 a0000c0018t0012 a0000c0019t0014 a0000c0035t0006 a0000c0037t0006 a0006c0006t0003 a0008c0008t0003 a0008c0008t0013 a0009c0010t0003 a0009c0010t0027 a0011c0013t0008 a0012c0014t0007 a0013c0015t0001 a0014c0020t0003 a0015c0022t0003 a0016c0021t0003 a0025c0031t0030 a0028c0036t0003 a0029c0034t0016	a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 others(31): Show a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 a0000c0009t0006g0090 a0000c0009t0006g0091 a0000c0009t0018g0095 a0000c0009t0018g0096 a0000c0012t0006g0009 a0000c0018t0012g0039 a0000c0019t0014g0049 a0000c0035t0006g0014 a0000c0037t0006g0077 a0006c0006t0003g0004 a0008c0008t0003g0008 a0008c0008t0003g0012 a0008c0008t0003g0081 a0008c0008t0013g0008 a0009c0010t0003g0007 a0009c0010t0003g0114 a0009c0010t0027g0007 a0011c0013t0008g0031 a0011c0013t0008g0034 a0011c0013t0008g0076 a0011c0013t0008g0078 a0012c0014t0007g0013 a0012c0014t0007g0083 a0013c0015t0001g0023 a0013c0015t0001g0088 a0014c0020t0003g0007 a0015c0022t0003g0012 a0016c0021t0003g0045 a0025c0031t0030g0072 a0028c0036t0003g0012 a0029c0034t0016g0098	116	455	0.2550	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0013	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0013c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0013c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0054 a0005c0019t0004g0056 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0053 a0013c0013t0011g0013 a0013c0013t0011g0055	102	402	0.2537	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(22): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(23): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0013c0014t0013 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(77): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0013c0014t0013g0011 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	136	208	0.6539	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266		chr6	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0018 a0002c0002 a0002c0006 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0002g0011 a0002c0002t0004g0007 a0002c0002t0007g0026 a0002c0002t0010g0007 a0002c0006t0001g0002 a0002c0018t0001g0002	105	425	0.2471	-1724	c.191 others(15): Show c.191-189_368-188del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr16	TogoVar
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): 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 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 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.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.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 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.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 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 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 a0001	a0001c0001 a0001c0002 a0001c0003 others(208): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179 a0001c0180 a0001c0181 a0001c0182 a0001c0183 a0001c0184 a0001c0185 a0001c0186 a0001c0187 a0001c0188 a0001c0189 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0001c0205 a0001c0206 a0001c0207 a0001c0208 a0001c0209 a0001c0210 a0001c0211 a0001c0212 a0001c0213 a0001c0214 a0001c0215 a0001c0216 a0001c0217 a0001c0218 a0001c0219 a0001c0220 a0001c0221 a0001c0222 a0001c0223 a0001c0224 a0001c0225 a0001c0226 a0001c0227 a0001c0228 a0001c0229 a0001c0230 a0001c0231	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(209): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0007 a0001c0011t0001 a0001c0012t0001 a0001c0013t0005 a0001c0014t0008 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0004 a0001c0020t0001 a0001c0021t0005 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0006 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0003 a0001c0039t0004 a0001c0040t0001 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0016 a0001c0093t0001 a0001c0094t0001 a0001c0095t0017 a0001c0096t0001 a0001c0097t0015 a0001c0098t0011 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0001 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0006 a0001c0115t0006 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0001 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0001 a0001c0139t0001 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0001 a0001c0152t0001 a0001c0153t0001 a0001c0154t0001 a0001c0155t0001 a0001c0156t0001 a0001c0157t0001 a0001c0158t0001 a0001c0159t0001 a0001c0160t0010 a0001c0161t0001 a0001c0162t0001 a0001c0163t0010 a0001c0164t0005 a0001c0165t0001 a0001c0166t0001 a0001c0167t0001 a0001c0168t0001 a0001c0169t0001 a0001c0170t0001 a0001c0171t0001 a0001c0172t0001 a0001c0173t0001 a0001c0174t0001 a0001c0175t0001 a0001c0176t0001 a0001c0177t0001 a0001c0178t0001 a0001c0179t0001 a0001c0180t0001 a0001c0181t0001 a0001c0182t0003 a0001c0183t0003 a0001c0184t0004 a0001c0185t0001 a0001c0186t0002 a0001c0187t0002 a0001c0188t0002 a0001c0189t0002 a0001c0190t0002 a0001c0191t0013 a0001c0192t0002 a0001c0193t0002 a0001c0194t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0198t0002 a0001c0199t0002 a0001c0200t0002 a0001c0201t0002 a0001c0202t0002 a0001c0203t0002 a0001c0204t0002 a0001c0205t0002 a0001c0206t0009 a0001c0207t0002 a0001c0208t0002 a0001c0209t0002 a0001c0210t0018 a0001c0211t0002 a0001c0212t0002 a0001c0213t0002 a0001c0214t0002 a0001c0215t0002 a0001c0216t0002 a0001c0217t0002 a0001c0218t0002 a0001c0219t0002 a0001c0220t0002 a0001c0221t0002 a0001c0222t0002 a0001c0223t0002 a0001c0224t0002 a0001c0225t0002 a0001c0226t0002 a0001c0227t0002 a0001c0228t0005 a0001c0229t0005 a0001c0230t0008 a0001c0231t0005	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(217): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0239 a0001c0003t0003g0003 a0001c0004t0001g0004 a0001c0005t0001g0005 a0001c0007t0001g0007 a0001c0007t0001g0048 a0001c0009t0007g0008 a0001c0011t0001g0009 a0001c0012t0001g0010 a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0014t0008g0013 a0001c0016t0001g0015 a0001c0017t0001g0016 a0001c0018t0001g0014 a0001c0019t0004g0020 a0001c0020t0001g0021 a0001c0021t0005g0019 a0001c0023t0001g0027 a0001c0024t0001g0028 a0001c0025t0001g0029 a0001c0026t0001g0030 a0001c0027t0006g0031 a0001c0028t0006g0032 a0001c0029t0001g0033 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0022 a0001c0035t0001g0023 a0001c0036t0001g0024 a0001c0037t0001g0025 a0001c0038t0003g0041 a0001c0039t0004g0040 a0001c0040t0001g0043 a0001c0041t0002g0044 a0001c0042t0002g0042 a0001c0043t0002g0045 a0001c0044t0002g0046 a0001c0045t0002g0047 a0001c0061t0001g0140 a0001c0062t0001g0141 a0001c0063t0001g0142 a0001c0064t0001g0143 a0001c0065t0001g0074 a0001c0066t0001g0075 a0001c0067t0001g0076 a0001c0068t0001g0077 a0001c0069t0001g0078 a0001c0070t0001g0079 a0001c0071t0001g0080 a0001c0072t0001g0053 a0001c0073t0001g0081 a0001c0074t0001g0082 a0001c0075t0001g0083 a0001c0076t0001g0084 a0001c0077t0001g0085 a0001c0078t0001g0086 a0001c0079t0001g0087 a0001c0080t0001g0088 a0001c0081t0001g0089 a0001c0082t0001g0090 a0001c0083t0001g0091 a0001c0084t0001g0092 a0001c0085t0001g0093 a0001c0086t0001g0094 a0001c0087t0001g0095 a0001c0088t0001g0192 a0001c0089t0001g0096 a0001c0090t0001g0097 a0001c0091t0014g0098 a0001c0092t0016g0099 a0001c0093t0001g0100 a0001c0094t0001g0101 a0001c0095t0017g0102 a0001c0096t0001g0103 a0001c0097t0015g0104 a0001c0098t0011g0105 a0001c0099t0001g0106 a0001c0100t0001g0107 a0001c0101t0001g0108 a0001c0102t0001g0109 a0001c0103t0001g0110 a0001c0104t0001g0111 a0001c0105t0001g0112 a0001c0106t0001g0113 a0001c0107t0001g0114 a0001c0108t0001g0115 a0001c0109t0001g0116 a0001c0110t0001g0117 a0001c0111t0001g0118 a0001c0112t0001g0119 a0001c0113t0001g0120 a0001c0114t0006g0121 a0001c0115t0006g0122 a0001c0116t0001g0123 a0001c0117t0001g0124 a0001c0118t0001g0125 a0001c0119t0001g0126 a0001c0120t0001g0049 a0001c0121t0001g0127 a0001c0122t0001g0128 a0001c0123t0001g0129 a0001c0124t0001g0130 a0001c0125t0001g0131 a0001c0126t0001g0132 a0001c0127t0001g0133 a0001c0128t0001g0134 a0001c0129t0001g0135 a0001c0130t0001g0136 a0001c0131t0001g0137 a0001c0132t0001g0138 a0001c0133t0001g0144 a0001c0134t0001g0145 a0001c0135t0001g0146 a0001c0136t0001g0147 a0001c0137t0001g0148 a0001c0138t0001g0149 a0001c0139t0001g0150 a0001c0140t0001g0151 a0001c0141t0001g0152 a0001c0142t0001g0153 a0001c0143t0001g0154 a0001c0144t0001g0155 a0001c0145t0001g0156 a0001c0146t0001g0157 a0001c0147t0001g0158 a0001c0148t0001g0159 a0001c0149t0001g0160 a0001c0150t0001g0161 a0001c0151t0001g0162 a0001c0152t0001g0163 a0001c0153t0001g0164 a0001c0154t0001g0165 a0001c0155t0001g0166 a0001c0156t0001g0167 a0001c0157t0001g0168 a0001c0158t0001g0169 a0001c0159t0001g0170 a0001c0160t0010g0171 a0001c0161t0001g0172 a0001c0162t0001g0173 a0001c0163t0010g0174 a0001c0164t0005g0139 a0001c0165t0001g0056 a0001c0166t0001g0057 a0001c0167t0001g0058 a0001c0168t0001g0059 a0001c0169t0001g0060 a0001c0170t0001g0061 a0001c0171t0001g0062 a0001c0172t0001g0063 a0001c0173t0001g0064 a0001c0174t0001g0065 a0001c0175t0001g0066 a0001c0176t0001g0067 a0001c0177t0001g0068 a0001c0178t0001g0069 a0001c0179t0001g0070 a0001c0180t0001g0071 a0001c0181t0001g0072 a0001c0182t0003g0204 a0001c0183t0003g0187 a0001c0184t0004g0186 a0001c0185t0001g0073 a0001c0186t0002g0205 a0001c0187t0002g0206 a0001c0188t0002g0188 a0001c0189t0002g0189 a0001c0190t0002g0190 a0001c0191t0013g0191 a0001c0192t0002g0207 a0001c0193t0002g0208 a0001c0194t0002g0209 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0198t0002g0212 a0001c0199t0002g0238 a0001c0200t0002g0213 a0001c0201t0002g0214 a0001c0202t0002g0215 a0001c0203t0002g0050 a0001c0204t0002g0216 a0001c0205t0002g0217 a0001c0206t0009g0218 a0001c0207t0002g0219 a0001c0208t0002g0220 a0001c0209t0002g0221 a0001c0210t0018g0241 a0001c0211t0002g0222 a0001c0212t0002g0223 a0001c0213t0002g0224 a0001c0214t0002g0225 a0001c0215t0002g0202 a0001c0216t0002g0227 a0001c0217t0002g0228 a0001c0218t0002g0229 a0001c0219t0002g0230 a0001c0220t0002g0231 a0001c0221t0002g0232 a0001c0222t0002g0233 a0001c0223t0002g0234 a0001c0224t0002g0235 a0001c0225t0002g0236 a0001c0226t0002g0237 a0001c0227t0002g0203 a0001c0228t0005g0183 a0001c0229t0005g0184 a0001c0230t0008g0181 a0001c0231t0005g0185	382	418	0.9139	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850		chr1	TogoVar
HSD17B2_chr16_82030253_82103534	82098435	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01109.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02451.hp1 HG02559.hp2 HG02809.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18943.hp2 NA18944.hp2 NA18978.hp1 NA19006.hp1 NA19043.hp2 NA19088.hp1 NA19091.hp2	a0000 a0000	a0000c0002 a0000c0004 a0000c0002 a0000c0004	a0000c0002t0001 a0000c0002t0002 a0000c0004t0001 a0000c0002t0001 a0000c0002t0002 a0000c0004t0001	a0000c0002t0001g0306 a0000c0002t0001g0308 a0000c0002t0001g0314 others(16): Show a0000c0002t0001g0306 a0000c0002t0001g0308 a0000c0002t0001g0314 a0000c0002t0001g0316 a0000c0002t0001g0317 a0000c0002t0001g0329 a0000c0002t0002g0041 a0000c0002t0002g0042 a0000c0002t0002g0123 a0000c0002t0002g0127 a0000c0002t0002g0168 a0000c0002t0002g0169 a0000c0002t0002g0171 a0000c0004t0001g0010 a0000c0004t0001g0152 a0000c0004t0001g0196 a0000c0004t0001g0197 a0000c0004t0001g0198 a0000c0004t0001g0199	20	366	0.0546	0	c.116 others(4): Show c.1163A>G	p.Ter others(11): Show p.Ter388Trpext*?	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	5/5	1335/1434	1163/1164	388/387		chr16	TogoVar
HTN3_chr4_70023459_70041538	70033205	T T	A A	stop_gained stop_gained	HIGH	HG01109.hp2 HG01243.hp2 HG01891.hp1 others(14): Show HG01109.hp2 HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0031 others(1): Show a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0031 a0002c0003t0002g0032	17	412	0.0413	0	c.141 others(3): Show c.141T>A	p.Tyr others(3): Show p.Tyr47*	HTN3	ENSG00000205649.9	transcript	ENST00000673563.1	protein_coding	5/6	212/532	141/156	47/51		chr4	TogoVar
HTR3D_chr3_184026742_184044369	184035176	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 HG01109.hp2 HG01175.hp1 others(6): Show HG00738.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0028 a0001c0002t0003g0011 a0001c0002t0003g0028	9	450	0.0200	0	c.67- others(4): Show c.67-2A>C		HTR3D	ENSG00000186090.11	transcript	ENST00000428798.7	protein_coding	1/7					chr3	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.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.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IHO1_chr3_49194498_49263106	49197178	GACGGGGT others(3996): Show GACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCAATCTCCTGACCTCGT GATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CCATGCCCAGGCCATTTTTACTTAAAAAAAATGTGTTTTAGACAGTCTCG CTCTGTTGCTCAGGCTTCAGTGCAGTGGCATGATCATGGCTCACTCTAAC CTCAAACTCCTGGACTCAAGGGATCCTCCCACCTTGGCCTCCCAAAGTTC TGGGATTACAGGCATGAGCTATGGTGTCCAGCCATGTTTTAATTTTTATA GCTTTATTTAGGTAAAATTAATACATGATAAACTGCACATATTGAAAATG TACAATTTGATGCATTTCGATATATGTATACACCTCTGAAACACTGCCAT CAAGAGAGTAAATATGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCTGGAGTTTGAGAC CAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTA ACTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAG GTAGGAGAATCGCTTGAACCTCAGAGGTGGAGGTTGTGGTGAGCCGAGAT TGTGCCATTGCACTCCAGCCTGGGTGAAACTCCTGAGAGTGAAACTCCAT CTCAAAAAAAAAAAAAAAGAAGAAGAAGATAGTAAATATGTTCATCACCC CAAGTTTCCTTCTGCCTAGTCGTAATCTTTCCTTATGGCACTCATTTGCC TCAGGCAATGCCACACCTCTGCTTTCTGTCACTATAGATTAATTTGCATT TTCTCGAATTTTATATAAATGGGATCATACAGTATGTATTCTTTTGTGTT TGGCTTTCACTCAGCGTAATTATTTTGAAATTTATTCATGTTGTTGTATC CATTGTTCATTCCTTTTTATTGCTTAGTAGTTGTCCATTGTATGGATATG CCAAATCTCTCCTCTTGATTTTTTGAATCCATACACAAATCAGGTTTTCA TCCTCACTACATCACTGTAACTGCTCCTACCAAGGTCACTCAAAGTTAAT TCTAACTAATCTTCCCTGAACACATCCGCAGCATTTGTCATAGCTGATCT CTGCCTCCTCTTTGAAGCAGTTCCAAGTGCCTTCCAGAATGCCTCATTCT CCTGGTGTCTTTCCCCGTCTCCTGACCAGGCTTGCTCCAACTCCTTGGCT GCTTTTCCTTCATCTCCAAAGTCCTCTAAACTGGTGTGTCCTGGGGCTGA ATCCAATCTCCTTTCCATTTATACTCCATTGGTGATTGCATCCTGTTTTT GTTTGTTTTTTGAGACAGGGTCTCATTCTGTCGCCCAGGCTGGAGTGTAG TGACGCGATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCAAACGATC CTCCCGCCTCAGCCTCCGAGTAGCTGGGACCACAGGCATGTGTTACCACG CCGGACTAATTTTTTGTAGAGCTGGGGTTTCGCCATGCTGCCCAGGCTGG TCTCAAGCATGTTTTTTGCTTTCTAAGTCATCTATAAGCACCAGAGGCAG AGTTACATAGATCCTTCCTGCCTACCCGCACTGTCCCTGCCCTCAGGCCA CTCCAGCATCCAGCAGGCCAGAAACCTCAGAAGATTTCTTGCCTCCTTTC TCTTTCCTCCAGGGGCCCGGTTCGATGTCCCCATCTGCCCACGGCGCCTC TCGTGCCAGCTGCTCCGCCTGTCCTGCCCTTGCTCAGACCACCCAAGTAT CATCTGTGCTCTGGCCCCTGGCCACCAGTTCCACCCCACATGCTGTCCTC ACAGGTGGCGCCTTGCCATTCCTGGGGACCAGGGCCTCCTTGTTCTGGTC ATACACAGTGGAGTGTAGGTCGAGCGACAAGTGAGTAGATCTGCATGCCA GGTGGGCCGAGGGTGGCCATTCCGGCGTGAGTGTGGGGGTGTGAGGGAAC GTTGCATGGGGTGCACGTGGGCTGGGTGTGGCGTGCAGCGGTGTGGCGCC AGGCAGGCAGCTTGGCGGGGCCCACAATCAGCGCGGTTGAGACCATTAGT ACGGTTAAAACCGTTAGCTGCCTGTCGCGGCGAGGGCGGGGCCCTGGGGA CTGGACGGAATCCCAGTTGGTCAGAGGAGACCCTGGGGGCGGGGCCGCGC GAGTTGCCGTTAGGACAGTTAAAACCGTTAGCTGCCTGTCGTGGCGGGGC GGGGCCCTGGGACAGGACGGAATCCCTATTGGTCAGAAGAGGACCTGGGG GCGGGGCCGCGCGTGCCGTTGCAGAGGCAGCGGGACGCGGCCACCTCGAA GCCACGTCAGGGCAGCCCCAGGTCGGGCGCGTGCCAGCAGCCAGAGGTGG GGACAGGAGGGCTTTGGGCAGGGTGGGTTGGGGAAAGGCGGGGGGAGGGG CTGAGGAGCCGGATGGGGCCGTGGGTCTGGGTTCAGGATACCAGCGGTCC TCCCGGGCTTTCCCGGGACGTTGGTCTTGTAGTCCCTCCCCTGCCCTTTC TTTCCCTATGGCGATGGCCGCTCTGGCTCTTGAAGGAGGCTTCACTTCCG CGCTTATCCTTGGAGAGCAGTTTTCATCCGATTCGCAGGGGTCCGCGACC TCCTATCCCAGATCCCCGCCTGGAGTTGAGGAGTGAGACCGGGTACGCCC CGGGAGCCAGAGTGAGCGGAGACCCAGAGAAGCCCGCTGGGATTTCTCTT TGATTATGAGTAGGGAAAACCCTGTGAGGCCTCTGGAAAGACATCAGAAG GATTTAGTCTAGGAGCTCAGAGCGTGTCTCCAGGTGGAGAAGAGGCGGAA AATGAGAGAGGCGGCCGGCCATTAGTGTTTGAGGCGGGCCGGTGGCCACA GGGGGCCTGAAGTCTGAGTAAGAGACCTGATTTTTTCTGCTAGAACTTTC TGCAGTGGAGGAACGGGAGGGGCACCTGGAGGGCCTCACATCGCAGCCTC AAGAATCTCGCAGTAGGCCGGCTGCGGTGGCTCACGCCACACTTTGGGAG GCTGAGGCAGGCGGATCTCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCC AACATAGCGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCAGGGCGT GGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TCACTAGAACCTGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACT GCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAG ATTGTCGCAGTAGAGTTGACGACGGTGGTCAGATGAGGTAGTCCATGCCA ATCGGGGCGGTCCTCTCCCCCTCACGTGTTCCTCCCTTGTGTACCCACCC TGCCAGGGCCCTTCCCTTGTATATAGTTCCATTCCTTGCATGCACTCAAC TTTTTCTCCCCTTTTATGCTTCCTTTAATAGGAAAGAGAGTGAGAGGTGA AAGTTTTTAATCTGTGCATTTCAGTTTTCATTTACCTTGGAATGACCGTG TTCCACCTTAGAACGAATACCTCTTCCTTACTAGTGCTGTACTAGCATCT TCAAGGAGAGCTTTAGAGAGATGGGATTTCCATCCTCTGGGAATTTAAAA GCCTATACAGGTAGCATGGAGATAAATACATGTACAAAAGAGAGATGAAC CTGAGTTTGAGTACATCAAGCCCCAGCTGGTTCTTAGACATATTGAGAAT AAGGGTGTACTTACCACAGTTTTTTGTTTTTTTTGAGACGGAGTCTCGCT TTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCACCCGCCACCACACCCGGCTAATTTTTTGCATTTTTAGT AGAA	G G	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0002 a0002c0003t0004g0002	1	196	0.0051	-4003	c.-24 others(14): Show c.-2410_-16+1608del		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/8					chr3	TogoVar
IPO7_chr11_9379652_9453127	9438045	G G	GTT GTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG01952.hp2 HG02723.hp1 others(6): Show HG01109.hp2 HG01952.hp2 HG02723.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0003g0295 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0006g0035 a0001c0001t0007g0300 a0001c0001t0007g0306	9	314	0.0287	2	c.249 others(15): Show c.2490-4_2490-3dupTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	21/24				INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1L_chr7_151185873_151210496	151195597	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0008 others(8): Show a0002 a0005 a0008 a0009 a0014 a0016 a0018 a0028 a0033 a0037 a0045	a0002c0003 a0002c0012 a0002c0015 others(26): Show a0002c0003 a0002c0012 a0002c0015 a0002c0025 a0002c0036 a0002c0037 a0002c0075 a0002c0076 a0002c0087 a0002c0102 a0005c0005 a0005c0019 a0005c0097 a0008c0024 a0008c0030 a0008c0042 a0008c0043 a0009c0011 a0014c0026 a0014c0028 a0016c0022 a0016c0081 a0018c0035 a0018c0073 a0018c0074 a0028c0041 a0033c0095 a0037c0086 a0045c0067	a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 others(26): Show a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 a0002c0025t0001 a0002c0036t0001 a0002c0037t0001 a0002c0075t0001 a0002c0076t0001 a0002c0087t0001 a0002c0102t0001 a0005c0005t0001 a0005c0019t0001 a0005c0097t0001 a0008c0024t0001 a0008c0030t0001 a0008c0042t0001 a0008c0043t0001 a0009c0011t0001 a0014c0026t0001 a0014c0028t0001 a0016c0022t0001 a0016c0081t0001 a0018c0035t0001 a0018c0073t0001 a0018c0074t0001 a0028c0041t0001 a0033c0095t0001 a0037c0086t0001 a0045c0067t0001	a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0053 a0002c0003t0001g0101 a0002c0003t0001g0108 a0002c0003t0001g0152 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0190 a0002c0012t0001g0013 a0002c0012t0001g0107 a0002c0012t0001g0134 a0002c0012t0001g0151 a0002c0012t0001g0154 a0002c0012t0001g0179 a0002c0012t0001g0183 a0002c0012t0001g0189 a0002c0015t0001g0003 a0002c0025t0001g0030 a0002c0025t0001g0275 a0002c0025t0001g0276 a0002c0036t0001g0153 a0002c0036t0001g0178 a0002c0037t0001g0116 a0002c0037t0001g0135 a0002c0075t0001g0188 a0002c0076t0001g0131 a0002c0087t0001g0124 a0002c0102t0001g0277 a0005c0005t0001g0006 a0005c0005t0001g0059 a0005c0005t0001g0060 a0005c0005t0001g0064 a0005c0005t0001g0067 a0005c0005t0001g0201 a0005c0005t0001g0207 a0005c0005t0001g0220 a0005c0005t0001g0221 a0005c0005t0001g0226 a0005c0005t0001g0235 a0005c0019t0001g0061 a0005c0019t0001g0224 a0005c0019t0001g0227 a0005c0019t0001g0233 a0005c0019t0001g0292 a0005c0097t0001g0234 a0008c0024t0001g0062 a0008c0024t0001g0208 a0008c0024t0001g0211 a0008c0024t0001g0245 a0008c0030t0001g0056 a0008c0030t0001g0246 a0008c0042t0001g0209 a0008c0042t0001g0249 a0008c0043t0001g0242 a0008c0043t0001g0255 a0009c0011t0001g0004 a0009c0011t0001g0193 a0009c0011t0001g0195 a0009c0011t0001g0196 a0014c0026t0001g0075 a0014c0026t0001g0086 a0014c0026t0001g0087 a0014c0026t0001g0088 a0014c0028t0001g0020 a0016c0022t0001g0112 a0016c0022t0001g0129 a0016c0022t0001g0167 a0016c0022t0001g0168 a0016c0022t0001g0170 a0016c0081t0001g0118 a0018c0035t0001g0176 a0018c0035t0001g0177 a0018c0073t0001g0119 a0018c0074t0001g0175 a0028c0041t0001g0055 a0033c0095t0001g0204 a0037c0086t0001g0100 a0045c0067t0001g0192	132	448	0.2946	-1	c.137 others(5): Show c.1375delG	p.Glu others(5): Show p.Glu459fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	11/19	1417/2606	1375/2457	459/818		chr7	TogoVar
JSRP1_chr19_2247252_2261417	2255312	C C	G G	start_lost start_lost	HIGH	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0012	a0003c0003 a0003c0010 a0003c0011 others(4): Show a0003c0003 a0003c0010 a0003c0011 a0003c0014 a0004c0004 a0008c0008 a0012c0013	a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 others(4): Show a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 a0003c0014t0001 a0004c0004t0001 a0008c0008t0001 a0012c0013t0001	a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 others(23): Show a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0014 a0003c0003t0001g0025 a0003c0003t0001g0036 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0076 a0003c0010t0001g0039 a0003c0010t0001g0043 a0003c0011t0001g0026 a0003c0014t0001g0042 a0004c0004t0001g0004 a0004c0004t0001g0021 a0004c0004t0001g0027 a0004c0004t0001g0038 a0004c0004t0001g0040 a0008c0008t0001g0022 a0012c0013t0001g0044	114	436	0.2615	0	c.3G> others(1): Show c.3G>C	p.Met others(2): Show p.Met1?	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	2/7	68/1138	3/996	1/331		chr19	TogoVar
KCNC3_chr19_50306937_50334377	50323201	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show HG00438.hp1 HG00597.hp2 HG01109.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG03927.hp2 NA18947.hp2 NA18954.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19085.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0009 a0014c0016 a0002c0003 a0002c0009 a0014c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(8): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0022 a0002c0003t0072 a0002c0009t0010 a0002c0009t0011 a0014c0016t0031	a0002c0003t0001g0039 a0002c0003t0001g0176 a0002c0003t0002g0065 others(10): Show a0002c0003t0001g0039 a0002c0003t0001g0176 a0002c0003t0002g0065 a0002c0003t0002g0148 a0002c0003t0004g0117 a0002c0003t0005g0233 a0002c0003t0007g0118 a0002c0003t0009g0222 a0002c0003t0022g0143 a0002c0003t0072g0219 a0002c0009t0010g0103 a0002c0009t0011g0104 a0014c0016t0031g0153	14	380	0.0368	1	c.175 others(5): Show c.1751dupC	p.Pro others(5): Show p.Pro585fs	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	2/5	2046/6747	1751/2274	584/757		chr19	TogoVar
KCNJ16_chr17_70070225_70140608	70100767	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18949.hp2 NA18962.hp1 NA18991.hp2 NA19005.hp1 NA19006.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001 a0002c0002t0004 a0002c0002t0006 a0002c0011t0030 a0005c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0007g0049 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0313 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0306 a0001c0001t0021g0294 a0001c0001t0023g0323 a0001c0001t0024g0319 a0001c0004t0001g0309 a0002c0002t0004g0009 a0002c0002t0004g0051 a0002c0002t0004g0142 a0002c0002t0006g0322 a0002c0011t0030g0290 a0005c0010t0004g0288	50	330	0.1515	0	c.-19 others(6): Show c.-191+1G>A		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3					chr17	TogoVar
KCTD1_chr18_26449910_26553553	26547048	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp1 HG03139.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18978.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0014 others(1): Show a0002c0003 a0002c0006 a0002c0014 a0002c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0006t0001 a0002c0014t0003 a0002c0016t0001	a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 others(32): Show a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0306 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0002g0304 a0002c0003t0002g0307 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0004g0313 a0002c0003t0005g0327 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0014t0003g0305 a0002c0016t0001g0334	35	338	0.1036	1	c.148 others(5): Show c.1488dupC	p.Thr others(5): Show p.Thr497fs	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1505/3448	1488/2598	496/865		chr18	TogoVar
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0095 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0113 a0001c0005t0019 a0001c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(106): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0006g0001 a0001c0001t0006g0040 a0001c0001t0006g0105 a0001c0001t0006g0132 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0319 a0001c0001t0011g0238 a0001c0001t0011g0259 a0001c0001t0012g0016 a0001c0001t0012g0324 a0001c0001t0012g0328 a0001c0001t0012g0329 a0001c0001t0013g0285 a0001c0001t0013g0302 a0001c0001t0013g0308 a0001c0001t0013g0315 a0001c0001t0020g0194 a0001c0001t0026g0233 a0001c0001t0028g0264 a0001c0001t0028g0273 a0001c0001t0029g0278 a0001c0001t0029g0314 a0001c0001t0032g0014 a0001c0001t0032g0256 a0001c0001t0033g0321 a0001c0001t0033g0322 a0001c0001t0042g0207 a0001c0001t0044g0023 a0001c0001t0044g0036 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0048g0248 a0001c0001t0049g0294 a0001c0001t0051g0312 a0001c0001t0052g0291 a0001c0001t0053g0001 a0001c0001t0055g0228 a0001c0001t0057g0229 a0001c0001t0063g0334 a0001c0001t0067g0042 a0001c0001t0068g0225 a0001c0001t0069g0297 a0001c0001t0071g0236 a0001c0001t0072g0254 a0001c0001t0073g0098 a0001c0001t0074g0318 a0001c0001t0075g0252 a0001c0001t0095g0262 a0001c0001t0105g0206 a0001c0001t0106g0016 a0001c0001t0107g0208 a0001c0001t0113g0025 a0001c0005t0019g0095 a0001c0010t0001g0219	111	390	0.2846	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12				INFO_REALIGN_3_PRIME	chr16	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(69): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.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 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0022 a0002c0002 a0002c0015 a0003c0004 a0004c0005 a0005c0007 a0005c0024 a0006c0008 a0008c0011 a0009c0012 a0010c0013 a0012c0014 a0013c0016 a0014c0017 a0015c0025 a0016c0023 a0017c0020 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0037 a0001c0003t0051 a0001c0006t0002 a0001c0006t0005 a0001c0006t0019 a0001c0010t0023 a0001c0019t0018 a0001c0022t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0030 a0002c0002t0040 a0002c0002t0046 a0002c0002t0052 a0002c0002t0053 a0002c0015t0003 a0003c0004t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0021 a0003c0004t0044 a0003c0004t0047 a0004c0005t0004 a0004c0005t0015 a0005c0007t0010 a0005c0007t0020 a0005c0024t0002 a0006c0008t0016 a0008c0011t0001 a0008c0011t0005 a0009c0012t0001 a0009c0012t0010 a0010c0013t0016 a0010c0013t0018 a0012c0014t0010 a0013c0016t0003 a0014c0017t0002 a0015c0025t0001 a0016c0023t0005 a0017c0020t0001 a0018c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0009g0051 a0001c0001t0009g0058 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0010g0256 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0013g0236 a0001c0001t0018g0272 a0001c0001t0021g0034 a0001c0001t0021g0105 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0032g0294 a0001c0001t0038g0362 a0001c0001t0039g0147 a0001c0001t0041g0206 a0001c0001t0042g0260 a0001c0003t0004g0016 a0001c0003t0004g0032 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0063 a0001c0003t0011g0041 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0182 a0001c0003t0026g0233 a0001c0003t0029g0333 a0001c0003t0029g0354 a0001c0003t0037g0180 a0001c0003t0051g0092 a0001c0006t0002g0262 a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0139 a0001c0006t0019g0140 a0001c0006t0019g0141 a0001c0010t0023g0329 a0001c0010t0023g0353 a0001c0019t0018g0271 a0001c0022t0010g0257 a0002c0002t0001g0231 a0002c0002t0001g0239 a0002c0002t0003g0010 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0162 a0002c0002t0003g0319 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0005g0341 a0002c0002t0005g0351 a0002c0002t0005g0352 a0002c0002t0011g0066 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0013g0237 a0002c0002t0013g0247 a0002c0002t0013g0248 a0002c0002t0013g0249 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0030g0080 a0002c0002t0030g0083 a0002c0002t0040g0082 a0002c0002t0046g0338 a0002c0002t0052g0035 a0002c0002t0053g0030 a0002c0015t0003g0135 a0003c0004t0001g0183 a0003c0004t0001g0197 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0005g0009 a0003c0004t0005g0017 a0003c0004t0005g0330 a0003c0004t0005g0331 a0003c0004t0005g0332 a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0337 a0003c0004t0005g0339 a0003c0004t0005g0340 a0003c0004t0005g0342 a0003c0004t0005g0343 a0003c0004t0005g0345 a0003c0004t0005g0346 a0003c0004t0005g0347 a0003c0004t0005g0348 a0003c0004t0005g0349 a0003c0004t0005g0350 a0003c0004t0005g0357 a0003c0004t0005g0359 a0003c0004t0005g0360 a0003c0004t0010g0018 a0003c0004t0021g0103 a0003c0004t0044g0334 a0003c0004t0047g0358 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0138 a0004c0005t0015g0163 a0004c0005t0015g0164 a0005c0007t0010g0019 a0005c0007t0020g0024 a0005c0007t0020g0025 a0005c0007t0020g0027 a0005c0024t0002g0261 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0011t0001g0185 a0008c0011t0005g0363 a0009c0012t0001g0250 a0009c0012t0010g0258 a0010c0013t0016g0168 a0010c0013t0018g0273 a0012c0014t0010g0255 a0013c0016t0003g0093 a0014c0017t0002g0315 a0015c0025t0001g0229 a0016c0023t0005g0344 a0017c0020t0001g0240 a0018c0021t0001g0200	335	375	0.8933	76	c.7_8 others(80): Show c.7_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCC TGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KISS1_chr1_204185341_204201491	204190483	CT CT	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02818.hp1 HG02886.hp1 HG03017.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0004 a0000c0002t0008 others(1): Show a0000c0002t0002 a0000c0002t0004 a0000c0002t0008 a0000c0002t0011	a0000c0002t0002g0001 a0000c0002t0002g0008 a0000c0002t0002g0020 others(31): Show a0000c0002t0002g0001 a0000c0002t0002g0008 a0000c0002t0002g0020 a0000c0002t0002g0022 a0000c0002t0002g0023 a0000c0002t0002g0032 a0000c0002t0002g0036 a0000c0002t0002g0053 a0000c0002t0002g0054 a0000c0002t0002g0059 a0000c0002t0002g0063 a0000c0002t0002g0067 a0000c0002t0002g0068 a0000c0002t0002g0069 a0000c0002t0002g0070 a0000c0002t0002g0071 a0000c0002t0002g0075 a0000c0002t0002g0077 a0000c0002t0002g0078 a0000c0002t0002g0079 a0000c0002t0002g0080 a0000c0002t0002g0081 a0000c0002t0004g0009 a0000c0002t0004g0013 a0000c0002t0004g0024 a0000c0002t0004g0099 a0000c0002t0004g0101 a0000c0002t0004g0104 a0000c0002t0004g0115 a0000c0002t0004g0122 a0000c0002t0008g0058 a0000c0002t0008g0076 a0000c0002t0011g0116 a0000c0002t0011g0130	121	400	0.3025	-1	c.417 others(4): Show c.417delA	p.Ter others(5): Show p.Ter139fs	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	3/3	571/714	417/417	139/138		chr1	TogoVar
KLF16_chr19_1847399_1868579	1854587	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show HG00438.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02486.hp1 HG02615.hp2 HG02809.hp1 HG02970.hp2 HG04199.hp2 NA18939.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18977.hp1 NA18987.hp2 NA18994.hp1 NA19056.hp2 NA19087.hp1 NA19087.hp2	a0000 a0000	a0000c0004 a0000c0005 a0000c0009 a0000c0004 a0000c0005 a0000c0009	a0000c0004t0002 a0000c0004t0004 a0000c0004t0005 others(5): Show a0000c0004t0002 a0000c0004t0004 a0000c0004t0005 a0000c0004t0018 a0000c0005t0001 a0000c0005t0003 a0000c0005t0006 a0000c0009t0004	a0000c0004t0002g0075 a0000c0004t0002g0081 a0000c0004t0002g0083 others(22): Show a0000c0004t0002g0075 a0000c0004t0002g0081 a0000c0004t0002g0083 a0000c0004t0002g0107 a0000c0004t0002g0108 a0000c0004t0002g0114 a0000c0004t0002g0119 a0000c0004t0002g0131 a0000c0004t0002g0167 a0000c0004t0002g0203 a0000c0004t0004g0183 a0000c0004t0004g0186 a0000c0004t0004g0244 a0000c0004t0005g0111 a0000c0004t0005g0148 a0000c0004t0005g0152 a0000c0004t0018g0091 a0000c0005t0001g0035 a0000c0005t0001g0221 a0000c0005t0001g0228 a0000c0005t0001g0239 a0000c0005t0001g0252 a0000c0005t0003g0247 a0000c0005t0006g0071 a0000c0009t0004g0046	26	398	0.0653	1	c.630 others(4): Show c.630dupC	p.Gly others(5): Show p.Gly211fs	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	2/2	712/2901	630/759	210/252		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0007t0001g0070 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0006g0155	251	448	0.5603	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5					chr19	TogoVar

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