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
LCN10_chr9_136733170_136747940	136740043	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp2 HG03669.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA20300.hp2 NA21309.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0006 a0006c0007 a0002c0002 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 others(6): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 others(12): Show a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 a0002c0002t0002g0055 a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0006g0016 a0002c0002t0008g0048 a0002c0002t0009g0049 a0002c0002t0010g0050 a0002c0002t0011g0056 a0005c0006t0002g0053 a0006c0007t0002g0052	86	392	0.2194	0	c.481 others(3): Show c.481C>T	p.Gln others(4): Show p.Gln161*	LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding	5/6	518/1995	481/603	161/200		chr9	TogoVar
LILRA6_chr19_54231590_54247790	54240484	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(34): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0015 a0016 a0022 a0023 a0025 a0032 a0034 a0035 a0036 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0063 a0070	a0002c0002 a0002c0027 a0002c0028 others(40): Show a0002c0002 a0002c0027 a0002c0028 a0002c0070 a0003c0003 a0003c0062 a0004c0004 a0006c0005 a0007c0007 a0007c0050 a0008c0008 a0010c0012 a0012c0011 a0015c0010 a0016c0016 a0022c0021 a0023c0075 a0023c0076 a0025c0026 a0032c0046 a0034c0052 a0035c0053 a0036c0079 a0038c0078 a0040c0065 a0041c0067 a0042c0064 a0043c0068 a0044c0074 a0045c0071 a0046c0069 a0047c0072 a0049c0063 a0050c0056 a0051c0057 a0052c0059 a0053c0058 a0054c0060 a0055c0061 a0056c0055 a0057c0054 a0063c0030 a0070c0049	a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 others(71): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0019 a0002c0002t0023 a0002c0002t0064 a0002c0002t0065 a0002c0027t0024 a0002c0028t0003 a0002c0070t0010 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0016 a0003c0003t0058 a0003c0003t0063 a0003c0062t0059 a0004c0004t0006 a0004c0004t0020 a0004c0004t0062 a0006c0005t0005 a0006c0005t0013 a0007c0007t0009 a0007c0007t0013 a0007c0007t0018 a0007c0050t0009 a0008c0008t0003 a0008c0008t0004 a0008c0008t0019 a0010c0012t0011 a0010c0012t0012 a0010c0012t0066 a0010c0012t0068 a0012c0011t0005 a0015c0010t0009 a0015c0010t0013 a0015c0010t0018 a0015c0010t0022 a0015c0010t0054 a0016c0016t0004 a0016c0016t0008 a0022c0021t0003 a0023c0075t0008 a0023c0076t0016 a0025c0026t0010 a0032c0046t0046 a0034c0052t0069 a0035c0053t0060 a0036c0079t0055 a0038c0078t0019 a0040c0065t0071 a0041c0067t0011 a0042c0064t0067 a0043c0068t0070 a0044c0074t0003 a0045c0071t0073 a0046c0069t0006 a0047c0072t0003 a0049c0063t0004 a0050c0056t0018 a0051c0057t0022 a0052c0059t0005 a0053c0058t0005 a0054c0060t0013 a0055c0061t0005 a0056c0055t0004 a0057c0054t0057 a0063c0030t0002 a0070c0049t0009	a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 others(97): Show a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 a0002c0002t0003g0152 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0167 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0004g0006 a0002c0002t0004g0139 a0002c0002t0004g0174 a0002c0002t0007g0027 a0002c0002t0007g0172 a0002c0002t0007g0175 a0002c0002t0008g0017 a0002c0002t0008g0171 a0002c0002t0010g0029 a0002c0002t0010g0176 a0002c0002t0011g0030 a0002c0002t0011g0200 a0002c0002t0012g0046 a0002c0002t0014g0016 a0002c0002t0014g0160 a0002c0002t0019g0173 a0002c0002t0023g0202 a0002c0002t0023g0203 a0002c0002t0064g0170 a0002c0002t0065g0159 a0002c0027t0024g0047 a0002c0028t0003g0187 a0002c0028t0003g0188 a0002c0070t0010g0166 a0003c0003t0003g0143 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0004g0040 a0003c0003t0007g0010 a0003c0003t0007g0141 a0003c0003t0016g0147 a0003c0003t0016g0149 a0003c0003t0016g0150 a0003c0003t0058g0146 a0003c0003t0063g0144 a0003c0062t0059g0142 a0004c0004t0006g0011 a0004c0004t0006g0137 a0004c0004t0006g0163 a0004c0004t0020g0041 a0004c0004t0062g0165 a0006c0005t0005g0009 a0006c0005t0013g0038 a0007c0007t0009g0025 a0007c0007t0009g0121 a0007c0007t0013g0124 a0007c0007t0018g0123 a0007c0050t0009g0127 a0008c0008t0003g0183 a0008c0008t0004g0019 a0008c0008t0019g0182 a0010c0012t0011g0195 a0010c0012t0012g0045 a0010c0012t0066g0198 a0010c0012t0068g0197 a0012c0011t0005g0014 a0015c0010t0009g0119 a0015c0010t0013g0122 a0015c0010t0018g0120 a0015c0010t0022g0125 a0015c0010t0054g0118 a0016c0016t0004g0028 a0016c0016t0008g0162 a0022c0021t0003g0026 a0023c0075t0008g0180 a0023c0076t0016g0181 a0025c0026t0010g0042 a0032c0046t0046g0104 a0034c0052t0069g0189 a0035c0053t0060g0186 a0036c0079t0055g0134 a0038c0078t0019g0157 a0040c0065t0071g0191 a0041c0067t0011g0194 a0042c0064t0067g0190 a0043c0068t0070g0196 a0044c0074t0003g0154 a0045c0071t0073g0205 a0046c0069t0006g0164 a0047c0072t0003g0158 a0049c0063t0004g0151 a0050c0056t0018g0132 a0051c0057t0022g0133 a0052c0059t0005g0129 a0053c0058t0005g0128 a0054c0060t0013g0130 a0055c0061t0005g0131 a0056c0055t0004g0136 a0057c0054t0057g0135 a0063c0030t0002g0092 a0070c0049t0009g0126	192	450	0.4267	0	c.104 others(4): Show c.1048C>T	p.Gln others(4): Show p.Gln350*	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	6/8	1087/3848	1048/1446	350/481		chr19	TogoVar
LILRB3_chr19_54211278_54228007	54220736	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 others(39): Show a0001 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0021 a0024 a0031 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066	a0001c0001 a0003c0002 a0004c0005 others(43): Show a0001c0001 a0003c0002 a0004c0005 a0004c0008 a0004c0046 a0005c0004 a0008c0010 a0009c0011 a0009c0076 a0010c0012 a0011c0013 a0012c0014 a0015c0019 a0016c0020 a0017c0023 a0017c0048 a0019c0026 a0020c0025 a0021c0027 a0024c0028 a0031c0034 a0036c0069 a0037c0053 a0038c0055 a0039c0054 a0040c0052 a0041c0061 a0042c0057 a0043c0056 a0044c0058 a0045c0060 a0046c0059 a0047c0062 a0049c0067 a0055c0071 a0056c0073 a0057c0072 a0058c0075 a0059c0074 a0060c0070 a0061c0042 a0062c0045 a0063c0047 a0064c0044 a0065c0043 a0066c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0002t0017 a0003c0002t0027 a0003c0002t0028 a0004c0005t0001 a0004c0008t0001 a0004c0008t0013 a0004c0046t0001 a0005c0004t0001 a0005c0004t0007 a0005c0004t0010 a0005c0004t0029 a0008c0010t0003 a0008c0010t0009 a0009c0011t0001 a0009c0011t0007 a0009c0076t0001 a0010c0012t0003 a0011c0013t0001 a0012c0014t0002 a0015c0019t0003 a0015c0019t0023 a0015c0019t0035 a0016c0020t0012 a0017c0023t0001 a0017c0048t0001 a0019c0026t0003 a0020c0025t0003 a0021c0027t0003 a0024c0028t0015 a0024c0028t0022 a0031c0034t0001 a0036c0069t0020 a0037c0053t0003 a0038c0055t0003 a0039c0054t0003 a0040c0052t0024 a0041c0061t0003 a0042c0057t0003 a0043c0056t0003 a0044c0058t0003 a0045c0060t0003 a0046c0059t0003 a0047c0062t0003 a0049c0067t0021 a0055c0071t0001 a0056c0073t0001 a0057c0072t0001 a0058c0075t0002 a0059c0074t0001 a0060c0070t0015 a0061c0042t0001 a0062c0045t0001 a0063c0047t0001 a0064c0044t0001 a0065c0043t0001 a0066c0030t0007	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0005g0016 a0001c0001t0005g0024 a0001c0001t0005g0087 a0001c0001t0010g0086 a0001c0001t0010g0093 a0001c0001t0018g0037 a0001c0001t0025g0094 a0001c0001t0026g0078 a0001c0001t0032g0090 a0001c0001t0034g0080 a0003c0002t0001g0103 a0003c0002t0002g0002 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0043 a0003c0002t0002g0102 a0003c0002t0002g0106 a0003c0002t0016g0098 a0003c0002t0016g0100 a0003c0002t0017g0042 a0003c0002t0027g0099 a0003c0002t0028g0101 a0004c0005t0001g0004 a0004c0005t0001g0145 a0004c0008t0001g0007 a0004c0008t0013g0028 a0004c0046t0001g0141 a0005c0004t0001g0012 a0005c0004t0001g0020 a0005c0004t0001g0022 a0005c0004t0001g0045 a0005c0004t0007g0138 a0005c0004t0010g0136 a0005c0004t0029g0137 a0008c0010t0003g0014 a0008c0010t0003g0033 a0008c0010t0003g0063 a0008c0010t0003g0064 a0008c0010t0009g0021 a0009c0011t0001g0008 a0009c0011t0007g0104 a0009c0076t0001g0105 a0010c0012t0003g0011 a0011c0013t0001g0017 a0011c0013t0001g0135 a0012c0014t0002g0015 a0015c0019t0003g0059 a0015c0019t0023g0061 a0015c0019t0035g0147 a0016c0020t0012g0032 a0016c0020t0012g0052 a0017c0023t0001g0143 a0017c0023t0001g0144 a0017c0048t0001g0146 a0019c0026t0003g0054 a0019c0026t0003g0055 a0020c0025t0003g0035 a0021c0027t0003g0034 a0024c0028t0015g0057 a0024c0028t0022g0058 a0031c0034t0001g0114 a0036c0069t0020g0050 a0037c0053t0003g0070 a0038c0055t0003g0072 a0039c0054t0003g0071 a0040c0052t0024g0053 a0041c0061t0003g0068 a0042c0057t0003g0062 a0043c0056t0003g0060 a0044c0058t0003g0065 a0045c0060t0003g0067 a0046c0059t0003g0066 a0047c0062t0003g0069 a0049c0067t0021g0051 a0055c0071t0001g0077 a0056c0073t0001g0089 a0057c0072t0001g0088 a0058c0075t0002g0097 a0059c0074t0001g0096 a0060c0070t0015g0056 a0061c0042t0001g0134 a0062c0045t0001g0140 a0063c0047t0001g0142 a0064c0044t0001g0139 a0065c0043t0001g0126 a0066c0030t0007g0074	312	455	0.6857	0	c.105 others(4): Show c.1050T>G	p.Tyr others(4): Show p.Tyr350*	LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding	6/13	1081/2742	1050/1896	350/631		chr19	TogoVar
LILRB3_chr19_54211278_54228007	54221872	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0010 others(16): Show a0001 a0003 a0010 a0012 a0016 a0019 a0020 a0024 a0037 a0038 a0040 a0049 a0052 a0055 a0056 a0057 a0058 a0059 a0060	a0001c0001 a0003c0002 a0010c0012 others(16): Show a0001c0001 a0003c0002 a0010c0012 a0012c0014 a0016c0020 a0019c0026 a0020c0025 a0024c0028 a0037c0053 a0038c0055 a0040c0052 a0049c0067 a0052c0049 a0055c0071 a0056c0073 a0057c0072 a0058c0075 a0059c0074 a0060c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0002t0017 a0003c0002t0027 a0003c0002t0028 a0010c0012t0003 a0012c0014t0002 a0016c0020t0012 a0019c0026t0003 a0020c0025t0003 a0024c0028t0015 a0024c0028t0022 a0037c0053t0003 a0038c0055t0003 a0040c0052t0024 a0049c0067t0021 a0052c0049t0004 a0055c0071t0001 a0056c0073t0001 a0057c0072t0001 a0058c0075t0002 a0059c0074t0001 a0060c0070t0015	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0005g0016 a0001c0001t0005g0024 a0001c0001t0005g0087 a0001c0001t0010g0086 a0001c0001t0010g0093 a0001c0001t0018g0037 a0001c0001t0025g0094 a0001c0001t0026g0078 a0001c0001t0032g0090 a0001c0001t0034g0080 a0003c0002t0001g0103 a0003c0002t0002g0002 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0043 a0003c0002t0002g0102 a0003c0002t0002g0106 a0003c0002t0016g0098 a0003c0002t0016g0100 a0003c0002t0017g0042 a0003c0002t0027g0099 a0003c0002t0028g0101 a0010c0012t0003g0011 a0012c0014t0002g0015 a0016c0020t0012g0032 a0016c0020t0012g0052 a0019c0026t0003g0054 a0019c0026t0003g0055 a0020c0025t0003g0035 a0024c0028t0015g0057 a0024c0028t0022g0058 a0037c0053t0003g0070 a0038c0055t0003g0072 a0040c0052t0024g0053 a0049c0067t0021g0051 a0052c0049t0004g0047 a0055c0071t0001g0077 a0056c0073t0001g0089 a0057c0072t0001g0088 a0058c0075t0002g0097 a0059c0074t0001g0096 a0060c0070t0015g0056	196	455	0.4308	0	c.614 others(3): Show c.614G>A	p.Trp others(4): Show p.Trp205*	LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding	4/13	645/2742	614/1896	205/631		chr19	TogoVar
LIPJ_chr10_88581762_88611976	88594666	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02071.hp1 HG02080.hp1 HG02280.hp2 others(10): Show HG02071.hp1 HG02080.hp1 HG02280.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp2 NA19030.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0003 a0008c0013 a0010c0012 a0001c0003 a0008c0013 a0010c0012	a0001c0003t0002 a0008c0013t0002 a0010c0012t0002 a0001c0003t0002 a0008c0013t0002 a0010c0012t0002	a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0040 others(6): Show a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0115 a0008c0013t0002g0116 a0010c0012t0002g0038	13	410	0.0317	0	c.330 others(5): Show c.330-1G>C		LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	5/10					chr10	TogoVar
LOC102725191_chr7_12499441_12546270	12523234	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18947.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp2 NA19065.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0341 a0001c0001t0002g0002 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0269 a0001c0001t0002g0293 a0001c0001t0003g0204 a0001c0007t0001g0106 a0001c0008t0002g0230	123	422	0.2915	1	c.274 others(4): Show c.274dupA	p.Ile others(4): Show p.Ile92fs	LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	2/6	378/1221	275/771	92/256	INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC128854680_chr10_75100669_75114157	75105731	G G	A A	stop_gained stop_gained	HIGH	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0000 a0007c0010t0000	a0007c0010t0000g0044 a0007c0010t0000g0044	1	402	0.0025	0	c.505 others(3): Show c.505C>T	p.Arg others(4): Show p.Arg169*	LOC128854680	ENSG00000293543.1	transcript	ENST00000713560.1	protein_coding	3/3	505/567	505/567	169/188		chr10	TogoVar
LPL_chr8_19934253_19972259	19962213	C C	G G	stop_gained stop_gained	HIGH	HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show HG00323.hp1 HG01081.hp1 HG01358.hp1 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02735.hp1 HG02809.hp2 HG03098.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18941.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18987.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19063.hp2 NA19075.hp1 NA19085.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0002c0007 a0002c0032 others(3): Show a0002c0004 a0002c0007 a0002c0032 a0002c0063 a0002c0064 a0009c0066	a0002c0004t0004 a0002c0004t0025 a0002c0007t0004 others(4): Show a0002c0004t0004 a0002c0004t0025 a0002c0007t0004 a0002c0032t0022 a0002c0063t0001 a0002c0064t0004 a0009c0066t0004	a0002c0004t0004g0005 a0002c0004t0004g0020 a0002c0004t0004g0022 others(22): Show a0002c0004t0004g0005 a0002c0004t0004g0020 a0002c0004t0004g0022 a0002c0004t0004g0051 a0002c0004t0004g0137 a0002c0004t0004g0148 a0002c0004t0004g0149 a0002c0004t0004g0245 a0002c0004t0004g0248 a0002c0004t0004g0262 a0002c0004t0004g0263 a0002c0004t0004g0268 a0002c0004t0025g0250 a0002c0007t0004g0061 a0002c0007t0004g0169 a0002c0007t0004g0183 a0002c0007t0004g0239 a0002c0007t0004g0253 a0002c0007t0004g0254 a0002c0007t0004g0256 a0002c0007t0004g0257 a0002c0032t0022g0054 a0002c0063t0001g0269 a0002c0064t0004g0170 a0009c0066t0004g0255	34	384	0.0885	0	c.142 others(4): Show c.1421C>G	p.Ser others(4): Show p.Ser474*	LPL	ENSG00000175445.17	transcript	ENST00000650287.1	protein_coding	9/10	1609/3565	1421/1428	474/475		chr8	TogoVar
LRRK1_chr15_100914357_101083257	101061162	C C	CACTT CACTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18975.hp2 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0014 a0016 a0025 a0027	a0001c0002 a0001c0004 a0001c0008 others(34): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0013 a0001c0017 a0001c0022 a0001c0023 a0001c0031 a0001c0033 a0001c0035 a0001c0036 a0001c0048 a0001c0055 a0001c0061 a0001c0063 a0001c0065 a0001c0079 a0001c0080 a0001c0081 a0001c0092 a0001c0095 a0001c0100 a0001c0102 a0001c0108 a0001c0110 a0001c0114 a0002c0018 a0003c0039 a0003c0074 a0006c0027 a0006c0111 a0007c0120 a0014c0053 a0016c0088 a0025c0096 a0027c0047	a0001c0002t0001 a0001c0002t0027 a0001c0002t0029 others(78): Show a0001c0002t0001 a0001c0002t0027 a0001c0002t0029 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0002t0054 a0001c0002t0152 a0001c0002t0157 a0001c0002t0166 a0001c0002t0168 a0001c0002t0169 a0001c0002t0172 a0001c0002t0173 a0001c0002t0174 a0001c0002t0175 a0001c0002t0176 a0001c0002t0177 a0001c0002t0180 a0001c0002t0181 a0001c0002t0186 a0001c0002t0187 a0001c0002t0188 a0001c0002t0226 a0001c0002t0265 a0001c0002t0268 a0001c0004t0001 a0001c0004t0015 a0001c0004t0027 a0001c0004t0028 a0001c0004t0035 a0001c0004t0135 a0001c0004t0167 a0001c0004t0171 a0001c0004t0228 a0001c0004t0241 a0001c0004t0248 a0001c0004t0249 a0001c0008t0051 a0001c0008t0198 a0001c0010t0049 a0001c0010t0204 a0001c0010t0207 a0001c0010t0209 a0001c0010t0211 a0001c0010t0260 a0001c0013t0047 a0001c0017t0165 a0001c0022t0164 a0001c0023t0160 a0001c0031t0251 a0001c0033t0009 a0001c0035t0014 a0001c0036t0039 a0001c0048t0191 a0001c0055t0247 a0001c0061t0014 a0001c0063t0161 a0001c0065t0250 a0001c0079t0206 a0001c0080t0163 a0001c0081t0190 a0001c0092t0001 a0001c0095t0184 a0001c0100t0202 a0001c0102t0162 a0001c0108t0158 a0001c0110t0153 a0001c0114t0219 a0002c0018t0023 a0003c0039t0001 a0003c0039t0028 a0003c0074t0033 a0006c0027t0021 a0006c0111t0132 a0007c0120t0179 a0014c0053t0009 a0016c0088t0001 a0025c0096t0087 a0027c0047t0203	a0001c0002t0001g0199 a0001c0002t0001g0243 a0001c0002t0001g0253 others(88): Show a0001c0002t0001g0199 a0001c0002t0001g0243 a0001c0002t0001g0253 a0001c0002t0001g0312 a0001c0002t0027g0002 a0001c0002t0029g0038 a0001c0002t0029g0274 a0001c0002t0032g0029 a0001c0002t0034g0053 a0001c0002t0040g0197 a0001c0002t0041g0284 a0001c0002t0054g0179 a0001c0002t0152g0203 a0001c0002t0157g0058 a0001c0002t0166g0216 a0001c0002t0168g0052 a0001c0002t0169g0214 a0001c0002t0172g0046 a0001c0002t0173g0224 a0001c0002t0174g0040 a0001c0002t0175g0233 a0001c0002t0176g0254 a0001c0002t0177g0063 a0001c0002t0180g0060 a0001c0002t0181g0249 a0001c0002t0186g0269 a0001c0002t0187g0070 a0001c0002t0188g0174 a0001c0002t0226g0209 a0001c0002t0265g0305 a0001c0002t0268g0309 a0001c0004t0001g0026 a0001c0004t0001g0088 a0001c0004t0001g0156 a0001c0004t0015g0157 a0001c0004t0015g0159 a0001c0004t0027g0028 a0001c0004t0028g0150 a0001c0004t0035g0161 a0001c0004t0135g0008 a0001c0004t0167g0146 a0001c0004t0171g0116 a0001c0004t0228g0130 a0001c0004t0241g0122 a0001c0004t0248g0129 a0001c0004t0249g0136 a0001c0008t0051g0271 a0001c0008t0198g0059 a0001c0010t0049g0079 a0001c0010t0204g0011 a0001c0010t0207g0115 a0001c0010t0209g0012 a0001c0010t0211g0017 a0001c0010t0260g0121 a0001c0013t0047g0007 a0001c0017t0165g0005 a0001c0022t0164g0327 a0001c0023t0160g0272 a0001c0031t0251g0072 a0001c0033t0009g0033 a0001c0033t0009g0034 a0001c0035t0014g0241 a0001c0035t0014g0259 a0001c0036t0039g0211 a0001c0048t0191g0004 a0001c0055t0247g0009 a0001c0061t0014g0153 a0001c0063t0161g0144 a0001c0065t0250g0125 a0001c0079t0206g0082 a0001c0080t0163g0084 a0001c0081t0190g0096 a0001c0092t0001g0045 a0001c0095t0184g0183 a0001c0100t0202g0061 a0001c0102t0162g0247 a0001c0108t0158g0321 a0001c0110t0153g0090 a0001c0114t0219g0318 a0002c0018t0023g0212 a0003c0039t0001g0184 a0003c0039t0028g0071 a0003c0074t0033g0158 a0006c0027t0021g0113 a0006c0027t0021g0114 a0006c0111t0132g0248 a0007c0120t0179g0239 a0014c0053t0009g0106 a0016c0088t0001g0277 a0025c0096t0087g0193 a0027c0047t0203g0091	91	338	0.2692	4	c.468 others(17): Show c.4680-6_4680-3dupTTAC		LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	29/33				INFO_REALIGN_3_PRIME	chr15	TogoVar
MAGEB16_chrX_35793342_35808772	35803010	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0008g0005 a0001c0001t0011g0011 a0001c0001t0013g0019 a0001c0001t0014g0015 a0001c0001t0015g0005 a0003c0003t0001g0001 a0004c0006t0001g0001	188	288	0.6528	0	c.814 others(3): Show c.814C>T	p.Arg others(4): Show p.Arg272*	MAGEB16	ENSG00000189023.11	transcript	ENST00000399988.6	protein_coding	2/2	957/1719	814/975	272/324		chrX	TogoVar
MAGEL2_chr15_23638549_23652867	23646183	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG02056.hp2 HG02135.hp1 others(10): Show HG01192.hp1 HG02056.hp2 HG02135.hp1 HG02738.hp1 HG03098.hp1 HG04184.hp1 NA18967.hp2 NA18980.hp2 NA18981.hp2 NA19001.hp2 NA19067.hp1 NA19072.hp1 NA19086.hp1	a0003 a0019 a0027 a0003 a0019 a0027	a0003c0003 a0019c0036 a0027c0028 a0003c0003 a0019c0036 a0027c0028	a0003c0003t0001 a0003c0003t0002 a0019c0036t0001 others(1): Show a0003c0003t0001 a0003c0003t0002 a0019c0036t0001 a0027c0028t0001	a0003c0003t0001g0000 a0003c0003t0002g0000 a0019c0036t0001g0000 others(1): Show a0003c0003t0001g0000 a0003c0003t0002g0000 a0019c0036t0001g0000 a0027c0028t0001g0000	13	436	0.0298	1	c.155 others(5): Show c.1559dupC	p.Pro others(5): Show p.Pro521fs	MAGEL2	ENSG00000254585.5	transcript	ENST00000650528.1	protein_coding	1/1	1684/4319	1559/3750	520/1249		chr15	TogoVar
MAGIX_chrX_49157758_49173774	49166187	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0001 a0008c0012t0002g0001	1	260	0.0039	-1	c.796 others(4): Show c.796delC	p.Arg others(5): Show p.Arg266fs	MAGIX	ENSG00000269313.6	transcript	ENST00000595224.6	protein_coding	6/6	928/3512	796/1005	266/334	INFO_REALIGN_3_PRIME	chrX	TogoVar
MALT1_chr18_58666465_58759477	58696337	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show HG00438.hp1 HG01106.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18940.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19079.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0047 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0293 others(46): Show a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0293 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0266 a0001c0001t0005g0185 a0001c0001t0006g0377 a0001c0001t0006g0380 a0001c0001t0007g0077 a0001c0001t0007g0079 a0001c0001t0007g0115 a0001c0001t0007g0231 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0008g0147 a0001c0001t0008g0151 a0001c0001t0009g0123 a0001c0001t0010g0159 a0001c0001t0011g0088 a0001c0001t0012g0057 a0001c0001t0012g0064 a0001c0001t0012g0065 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0012g0069 a0001c0001t0013g0276 a0001c0001t0018g0059 a0001c0001t0018g0060 a0001c0001t0018g0061 a0001c0001t0018g0062 a0001c0001t0023g0156 a0001c0001t0027g0354 a0001c0001t0027g0355 a0001c0001t0027g0356 a0001c0001t0028g0381 a0001c0001t0032g0322 a0001c0001t0047g0225 a0001c0001t0071g0141 a0001c0001t0076g0056 a0001c0001t0077g0058 a0001c0001t0078g0357 a0001c0001t0079g0070	49	406	0.1207	1	c.377 others(6): Show c.377-3dupT		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16				INFO_REALIGN_3_PRIME	chr18	TogoVar
ME1_chr6_83205402_83436051	83352114	G G	A A	stop_gained stop_gained	HIGH	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0031 a0004c0012t0002g0031	1	272	0.0037	0	c.388 others(3): Show c.388C>T	p.Arg others(4): Show p.Arg130*	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	4/14	485/3338	388/1719	130/572		chr6	TogoVar
MICA_chr6_31398595_31420315	31412380	TGCTG TGCTG	T T	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02572.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG04204.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA19000.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19075.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0000 a0000	a0000c0008 a0000c0009 a0000c0012 others(2): Show a0000c0008 a0000c0009 a0000c0012 a0000c0015 a0000c0019	a0000c0008t0004 a0000c0009t0005 a0000c0012t0004 others(2): Show a0000c0008t0004 a0000c0009t0005 a0000c0012t0004 a0000c0015t0003 a0000c0019t0003	a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0068 others(21): Show a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0068 a0000c0008t0004g0069 a0000c0008t0004g0078 a0000c0008t0004g0079 a0000c0008t0004g0080 a0000c0008t0004g0110 a0000c0009t0005g0055 a0000c0009t0005g0056 a0000c0009t0005g0057 a0000c0009t0005g0058 a0000c0009t0005g0106 a0000c0009t0005g0107 a0000c0009t0005g0108 a0000c0009t0005g0109 a0000c0009t0005g0114 a0000c0009t0005g0115 a0000c0012t0004g0019 a0000c0012t0004g0081 a0000c0015t0003g0030 a0000c0015t0003g0062 a0000c0019t0003g0092 a0000c0019t0003g0093	46	439	0.1048	-4	c.953 others(11): Show c.953_956delGCTG	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332	INFO_REALIGN_3_PRIME	chr6	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0014 others(2): Show a0000c0002 a0000c0004 a0000c0014 a0000c0017 a0000c0027	a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 others(4): Show a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 a0000c0004t0007 a0000c0014t0001 a0000c0017t0008 a0000c0027t0008	a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 others(34): Show a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 a0000c0002t0001g0022 a0000c0002t0001g0040 a0000c0002t0001g0063 a0000c0002t0001g0064 a0000c0002t0001g0065 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0006g0001 a0000c0004t0001g0003 a0000c0004t0001g0033 a0000c0004t0001g0034 a0000c0004t0001g0045 a0000c0004t0001g0046 a0000c0004t0001g0047 a0000c0004t0001g0048 a0000c0004t0001g0082 a0000c0004t0001g0083 a0000c0004t0001g0084 a0000c0004t0001g0085 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0007g0003 a0000c0004t0007g0033 a0000c0004t0007g0034 a0000c0004t0007g0086 a0000c0004t0007g0105 a0000c0014t0001g0023 a0000c0014t0001g0066 a0000c0017t0008g0059 a0000c0017t0008g0113 a0000c0027t0008g0116	113	439	0.2574	2	c.952 others(9): Show c.952_953insCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MOK_chr14_102223836_102310164	102263549	G G	A A	stop_gained stop_gained	HIGH	HG01070.hp1 HG01071.hp2 HG01099.hp2 others(18): Show HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01346.hp1 HG02015.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04228.hp1 NA18952.hp1 NA18953.hp2 NA18965.hp1 NA18969.hp1 NA19091.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0003 a0003c0002t0002g0004 a0003c0002t0002g0008 others(18): Show a0003c0002t0002g0003 a0003c0002t0002g0004 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0011 a0003c0002t0002g0012 a0003c0002t0002g0013 a0003c0002t0002g0014 a0003c0002t0002g0015 a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0002t0002g0018 a0003c0002t0002g0019 a0003c0002t0002g0020 a0003c0002t0002g0021 a0003c0002t0002g0022 a0003c0002t0002g0023 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0110	21	252	0.0833	0	c.280 others(3): Show c.280C>T	p.Arg others(3): Show p.Arg94*	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/12	476/1909	280/1260	94/419		chr14	TogoVar
MON2_chr12_62461826_62605476	62578430	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18990.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0010 a0011 a0012	a0001c0002 a0001c0006 a0001c0009 others(7): Show a0001c0002 a0001c0006 a0001c0009 a0001c0016 a0002c0001 a0002c0015 a0007c0021 a0010c0012 a0011c0013 a0012c0014	a0001c0002t0031 a0001c0006t0003 a0001c0006t0007 others(20): Show a0001c0002t0031 a0001c0006t0003 a0001c0006t0007 a0001c0006t0033 a0001c0006t0034 a0001c0006t0042 a0001c0009t0019 a0001c0016t0032 a0002c0001t0001 a0002c0001t0006 a0002c0001t0009 a0002c0001t0012 a0002c0001t0018 a0002c0001t0025 a0002c0001t0027 a0002c0001t0028 a0002c0001t0029 a0002c0001t0030 a0002c0015t0024 a0007c0021t0001 a0010c0012t0001 a0011c0013t0006 a0012c0014t0009	a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 a0001c0006t0003g0007 a0001c0006t0003g0008 a0001c0006t0003g0105 a0001c0006t0003g0106 a0001c0006t0003g0107 a0001c0006t0003g0108 a0001c0006t0003g0109 a0001c0006t0007g0009 a0001c0006t0007g0010 a0001c0006t0007g0011 a0001c0006t0007g0012 a0001c0006t0007g0013 a0001c0006t0007g0014 a0001c0006t0007g0015 a0001c0006t0007g0016 a0001c0006t0007g0017 a0001c0006t0007g0018 a0001c0006t0007g0019 a0001c0006t0007g0021 a0001c0006t0033g0022 a0001c0006t0034g0020 a0001c0006t0042g0004 a0001c0009t0019g0103 a0001c0009t0019g0104 a0001c0016t0032g0252 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0110 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0182 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0217 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0253 a0002c0001t0006g0143 a0002c0001t0006g0183 a0002c0001t0006g0185 a0002c0001t0006g0187 a0002c0001t0006g0188 a0002c0001t0006g0189 a0002c0001t0006g0190 a0002c0001t0006g0191 a0002c0001t0006g0195 a0002c0001t0006g0197 a0002c0001t0006g0198 a0002c0001t0006g0199 a0002c0001t0006g0200 a0002c0001t0006g0201 a0002c0001t0006g0206 a0002c0001t0006g0213 a0002c0001t0006g0214 a0002c0001t0006g0215 a0002c0001t0006g0216 a0002c0001t0006g0251 a0002c0001t0009g0192 a0002c0001t0009g0193 a0002c0001t0009g0194 a0002c0001t0009g0210 a0002c0001t0012g0140 a0002c0001t0012g0239 a0002c0001t0012g0244 a0002c0001t0018g0174 a0002c0001t0018g0248 a0002c0001t0025g0186 a0002c0001t0027g0164 a0002c0001t0028g0181 a0002c0001t0029g0149 a0002c0001t0030g0139 a0002c0015t0024g0184 a0007c0021t0001g0337 a0010c0012t0001g0152 a0011c0013t0006g0196 a0012c0014t0009g0218	148	368	0.4022	1	c.451 others(7): Show c.4515-3dupT		MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	30/34				INFO_REALIGN_3_PRIME	chr12	TogoVar
MROH2B_chr5_40993020_41076342	41061613	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(95): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG03098.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0009 others(8): Show a0002 a0006 a0009 a0012 a0016 a0017 a0029 a0040 a0041 a0042 a0043	a0002c0004 a0002c0027 a0002c0029 others(17): Show a0002c0004 a0002c0027 a0002c0029 a0002c0036 a0002c0062 a0006c0005 a0006c0063 a0009c0007 a0012c0010 a0016c0012 a0017c0028 a0017c0035 a0017c0057 a0017c0064 a0029c0058 a0029c0059 a0040c0055 a0041c0056 a0042c0060 a0043c0061	a0002c0004t0002 a0002c0027t0002 a0002c0029t0002 others(17): Show a0002c0004t0002 a0002c0027t0002 a0002c0029t0002 a0002c0036t0002 a0002c0062t0002 a0006c0005t0002 a0006c0063t0002 a0009c0007t0002 a0012c0010t0002 a0016c0012t0002 a0017c0028t0002 a0017c0035t0002 a0017c0057t0002 a0017c0064t0002 a0029c0058t0002 a0029c0059t0002 a0040c0055t0002 a0041c0056t0002 a0042c0060t0002 a0043c0061t0002	a0002c0004t0002g0002 a0002c0004t0002g0004 a0002c0004t0002g0011 others(89): Show a0002c0004t0002g0002 a0002c0004t0002g0004 a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0022 a0002c0004t0002g0023 a0002c0004t0002g0024 a0002c0004t0002g0039 a0002c0004t0002g0043 a0002c0004t0002g0054 a0002c0004t0002g0055 a0002c0004t0002g0056 a0002c0004t0002g0060 a0002c0004t0002g0061 a0002c0004t0002g0067 a0002c0004t0002g0068 a0002c0004t0002g0069 a0002c0004t0002g0072 a0002c0004t0002g0076 a0002c0004t0002g0087 a0002c0004t0002g0093 a0002c0004t0002g0096 a0002c0004t0002g0097 a0002c0004t0002g0098 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0027t0002g0021 a0002c0027t0002g0040 a0002c0027t0002g0041 a0002c0029t0002g0083 a0002c0029t0002g0084 a0002c0029t0002g0085 a0002c0036t0002g0079 a0002c0036t0002g0080 a0002c0062t0002g0013 a0006c0005t0002g0001 a0006c0005t0002g0003 a0006c0005t0002g0033 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0036 a0006c0005t0002g0037 a0006c0005t0002g0051 a0006c0005t0002g0053 a0006c0005t0002g0058 a0006c0005t0002g0059 a0006c0005t0002g0064 a0006c0005t0002g0073 a0006c0005t0002g0074 a0006c0005t0002g0077 a0006c0063t0002g0042 a0009c0007t0002g0025 a0009c0007t0002g0026 a0009c0007t0002g0028 a0009c0007t0002g0029 a0009c0007t0002g0038 a0009c0007t0002g0052 a0009c0007t0002g0062 a0009c0007t0002g0063 a0009c0007t0002g0065 a0009c0007t0002g0066 a0009c0007t0002g0070 a0009c0007t0002g0071 a0009c0007t0002g0075 a0009c0007t0002g0082 a0012c0010t0002g0018 a0012c0010t0002g0027 a0012c0010t0002g0030 a0012c0010t0002g0031 a0012c0010t0002g0032 a0012c0010t0002g0045 a0012c0010t0002g0046 a0012c0010t0002g0047 a0016c0012t0002g0005 a0016c0012t0002g0015 a0016c0012t0002g0017 a0016c0012t0002g0086 a0016c0012t0002g0088 a0016c0012t0002g0089 a0017c0028t0002g0057 a0017c0028t0002g0078 a0017c0028t0002g0081 a0017c0035t0002g0014 a0017c0035t0002g0048 a0017c0057t0002g0094 a0017c0064t0002g0050 a0029c0058t0002g0091 a0029c0059t0002g0090 a0040c0055t0002g0044 a0041c0056t0002g0016 a0042c0060t0002g0049 a0043c0061t0002g0095	98	396	0.2475	0	c.572 others(3): Show c.572G>A	p.Trp others(4): Show p.Trp191*	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	6/42	1062/5280	572/4758	191/1585		chr5	TogoVar
MROH6_chr8_143561192_143577772	143567371	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02155.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 NA18946.hp2 NA18948.hp1 NA18970.hp1 NA18977.hp2 NA19030.hp1 NA19067.hp2 NA19083.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp2	a0000 a0000	a0000c0004 a0000c0007 a0000c0020 others(6): Show a0000c0004 a0000c0007 a0000c0020 a0000c0027 a0000c0031 a0000c0033 a0000c0040 a0000c0045 a0000c0056	a0000c0004t0003 a0000c0004t0012 a0000c0004t0026 others(8): Show a0000c0004t0003 a0000c0004t0012 a0000c0004t0026 a0000c0007t0003 a0000c0020t0003 a0000c0027t0001 a0000c0031t0003 a0000c0033t0003 a0000c0040t0019 a0000c0045t0003 a0000c0056t0003	a0000c0004t0003g0016 a0000c0004t0003g0017 a0000c0004t0003g0042 others(19): Show a0000c0004t0003g0016 a0000c0004t0003g0017 a0000c0004t0003g0042 a0000c0004t0003g0113 a0000c0004t0003g0122 a0000c0004t0003g0139 a0000c0004t0003g0140 a0000c0004t0003g0141 a0000c0004t0012g0137 a0000c0004t0012g0144 a0000c0004t0026g0123 a0000c0007t0003g0012 a0000c0007t0003g0154 a0000c0007t0003g0157 a0000c0020t0003g0158 a0000c0020t0003g0166 a0000c0027t0001g0095 a0000c0031t0003g0118 a0000c0033t0003g0091 a0000c0040t0019g0146 a0000c0045t0003g0067 a0000c0056t0003g0171	37	437	0.0847	1	c.202 others(5): Show c.2027dupG	p.Cys others(5): Show p.Cys677fs	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	14/14	2085/3265	2027/2160	676/719		chr8	TogoVar
MROH6_chr8_143561192_143577772	143569978	A A	AGGCTGCG others(9): Show AGGCTGCGGGTCGTCCG	frameshift_variant frameshift_variant	HIGH	HG02809.hp1 HG03098.hp1 HG03130.hp2 HG02809.hp1 HG03098.hp1 HG03130.hp2	a0009 a0015 a0019 a0009 a0015 a0019	a0009c0041 a0015c0038 a0019c0047 a0009c0041 a0015c0038 a0019c0047	a0009c0041t0001 a0015c0038t0001 a0019c0047t0001 a0009c0041t0001 a0015c0038t0001 a0019c0047t0001	a0009c0041t0001g0057 a0015c0038t0001g0132 a0019c0047t0001g0066 a0009c0041t0001g0057 a0015c0038t0001g0132 a0019c0047t0001g0066	3	437	0.0069	16	c.113 others(25): Show c.1130_1131insCGGACGACCCGCAGCC	p.Leu others(5): Show p.Leu378fs	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	7/14	1188/3265	1130/2160	377/719		chr8	TogoVar
MROH6_chr8_143561192_143577772	143571685	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01255.hp1 HG01255.hp2 HG02257.hp1 others(5): Show HG01255.hp1 HG01255.hp2 HG02257.hp1 HG03098.hp1 NA18947.hp1 NA18985.hp1 NA18993.hp2 NA19000.hp2	a0006 a0009 a0006 a0009	a0006c0010 a0006c0025 a0009c0016 others(1): Show a0006c0010 a0006c0025 a0009c0016 a0009c0041	a0006c0010t0001 a0006c0010t0017 a0006c0025t0020 others(3): Show a0006c0010t0001 a0006c0010t0017 a0006c0025t0020 a0009c0016t0001 a0009c0016t0027 a0009c0041t0001	a0006c0010t0001g0082 a0006c0010t0001g0083 a0006c0010t0001g0084 others(5): Show a0006c0010t0001g0082 a0006c0010t0001g0083 a0006c0010t0001g0084 a0006c0010t0017g0081 a0006c0025t0020g0079 a0009c0016t0001g0055 a0009c0016t0027g0056 a0009c0041t0001g0057	8	437	0.0183	1	c.583 others(4): Show c.583dupC	p.Arg others(5): Show p.Arg195fs	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	3/14	641/3265	583/2160	195/719		chr8	TogoVar
MRPL36_chr5_1793385_1804837	1799789	T T	TACCCGGC others(11): Show TACCCGGCCGCACGCTCTC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp2 NA19000.hp1 NA19010.hp2 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0002g0007 a0001c0001t0004g0016	85	432	0.1968	18	c.-28 others(27): Show c.-28_-13+2dupGAGAGCGTGCGGCCGGGT		MRPL36	ENSG00000171421.13	transcript	ENST00000505059.7	protein_coding	1/1					chr5	TogoVar
MRPS34_chr16_1766895_1778134	1772796	C C	CACCT CACCT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0003c0004t0001 a0005c0005t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 a0001c0001t0005g0013 a0001c0001t0006g0014 a0001c0003t0001g0004 a0003c0004t0001g0006 a0005c0005t0001g0007 a0006c0007t0001g0011	169	436	0.3876	4	c.320 others(13): Show c.320_321+2dupAGGT		MRPS34	ENSG00000074071.15	transcript	ENST00000397375.7	protein_coding	1/2					chr16	TogoVar
MS4A12_chr11_60487778_60512430	60497529	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001 a0002c0007t0002	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0105 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0062 a0002c0004t0001g0075 a0002c0004t0001g0121 a0002c0005t0002g0031 a0002c0006t0001g0004 a0002c0007t0002g0009	181	432	0.4190	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	2/7	268/1167	211/804	71/267		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60397879	ATT ATT	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0003t0001g0028 a0001c0003t0001g0038 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0005t0001g0010 a0001c0005t0001g0019 a0001c0005t0001g0034 a0001c0005t0001g0076 a0001c0008t0001g0005 a0001c0009t0001g0032 a0001c0009t0001g0090 a0001c0012t0001g0003 a0001c0013t0001g0055	252	428	0.5888	-2	c.167 others(9): Show c.167_168delTT	p.Ile others(4): Show p.Ile56fs	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding	2/5	287/2908	167/2040	56/679		chr11	TogoVar
MT1G_chr16_56661730_56673065	56667382	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0005g0007	128	470	0.2723	0	c.29- others(4): Show c.29-2A>T		MT1G	ENSG00000125144.14	transcript	ENST00000379811.4	protein_coding	1/2					chr16	TogoVar
MUC22_chr6_31005474_31040402	31027337	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp2 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp2	a0006 a0011 a0022 others(8): Show a0006 a0011 a0022 a0045 a0087 a0092 a0098 a0100 a0108 a0113 a0126	a0006c0005 a0006c0024 a0006c0093 others(12): Show a0006c0005 a0006c0024 a0006c0093 a0011c0016 a0022c0036 a0022c0150 a0045c0152 a0045c0153 a0087c0109 a0092c0141 a0098c0104 a0100c0103 a0108c0102 a0113c0097 a0126c0127	a0006c0005t0001 a0006c0024t0001 a0006c0093t0001 others(12): Show a0006c0005t0001 a0006c0024t0001 a0006c0093t0001 a0011c0016t0001 a0022c0036t0002 a0022c0150t0002 a0045c0152t0001 a0045c0153t0002 a0087c0109t0001 a0092c0141t0001 a0098c0104t0001 a0100c0103t0001 a0108c0102t0001 a0113c0097t0001 a0126c0127t0001	a0006c0005t0001g0001 a0006c0005t0001g0124 a0006c0005t0001g0213 others(17): Show a0006c0005t0001g0001 a0006c0005t0001g0124 a0006c0005t0001g0213 a0006c0005t0001g0233 a0006c0005t0001g0239 a0006c0005t0001g0243 a0006c0024t0001g0001 a0006c0093t0001g0001 a0011c0016t0001g0008 a0022c0036t0002g0001 a0022c0150t0002g0232 a0045c0152t0001g0170 a0045c0153t0002g0167 a0087c0109t0001g0140 a0092c0141t0001g0001 a0098c0104t0001g0001 a0100c0103t0001g0001 a0108c0102t0001g0070 a0113c0097t0001g0235 a0126c0127t0001g0111	41	461	0.0889	-1	c.190 others(5): Show c.1908delC	p.Thr others(5): Show p.Thr637fs	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	2141/6019	1908/5322	636/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195780335	TGGTGACA others(136): Show TGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTG GTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGT GACAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGA	T T	frameshift_variant frameshift_variant	HIGH	HG03098.hp2 HG03098.hp2	a0069 a0069	a0069c0172 a0069c0172	a0069c0172t0005 a0069c0172t0005	a0069c0172t0005g0230 a0069c0172t0005g0230	1	249	0.0040	-143	c.111 others(11): Show c.11102_11244del	p.Ile others(6): Show p.Ile3701fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11356/16756	11102/16239	3701/5412		chr3	TogoVar
MYO15B_chr17_75582800_75631849	75588737	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG06807.hp2 NA18959.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA19030.hp2 NA19077.hp1 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0003 a0015 a0050 others(1): Show a0003 a0015 a0050 a0091	a0003c0008 a0003c0024 a0003c0025 others(28): Show a0003c0008 a0003c0024 a0003c0025 a0003c0026 a0003c0037 a0003c0038 a0003c0039 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0003c0062 a0003c0063 a0003c0064 a0003c0120 a0003c0121 a0003c0122 a0003c0123 a0003c0124 a0003c0125 a0003c0126 a0003c0127 a0003c0128 a0003c0129 a0015c0040 a0015c0130 a0015c0131 a0050c0054 a0091c0119	a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 others(28): Show a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 a0003c0026t0002 a0003c0037t0002 a0003c0038t0002 a0003c0039t0002 a0003c0056t0002 a0003c0057t0002 a0003c0058t0010 a0003c0059t0002 a0003c0060t0002 a0003c0061t0002 a0003c0062t0002 a0003c0063t0002 a0003c0064t0002 a0003c0120t0002 a0003c0121t0002 a0003c0122t0002 a0003c0123t0002 a0003c0124t0002 a0003c0125t0002 a0003c0126t0002 a0003c0127t0002 a0003c0128t0002 a0003c0129t0002 a0015c0040t0002 a0015c0130t0002 a0015c0131t0002 a0050c0054t0002 a0091c0119t0002	a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 others(37): Show a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 a0003c0008t0002g0068 a0003c0008t0002g0069 a0003c0024t0002g0050 a0003c0024t0002g0051 a0003c0025t0002g0062 a0003c0025t0002g0067 a0003c0026t0002g0007 a0003c0037t0002g0060 a0003c0037t0002g0061 a0003c0038t0002g0057 a0003c0038t0002g0074 a0003c0039t0002g0072 a0003c0039t0002g0073 a0003c0056t0002g0006 a0003c0057t0002g0046 a0003c0058t0010g0071 a0003c0059t0002g0006 a0003c0060t0002g0065 a0003c0061t0002g0064 a0003c0062t0002g0070 a0003c0063t0002g0052 a0003c0064t0002g0053 a0003c0120t0002g0054 a0003c0121t0002g0047 a0003c0122t0002g0056 a0003c0123t0002g0042 a0003c0124t0002g0043 a0003c0125t0002g0058 a0003c0126t0002g0059 a0003c0127t0002g0048 a0003c0128t0002g0049 a0003c0129t0002g0055 a0015c0040t0002g0008 a0015c0130t0002g0076 a0015c0131t0002g0077 a0050c0054t0002g0044 a0091c0119t0002g0078	42	384	0.1094	1	c.684 others(4): Show c.684dupG	p.Pro others(5): Show p.Pro229fs	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/64	943/9914	685/9291	229/3096	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO15B_chr17_75582800_75631849	75589275	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(34): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG06807.hp2 NA18959.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA19030.hp2 NA19077.hp1 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0003 a0050 a0003 a0050	a0003c0008 a0003c0024 a0003c0025 others(24): Show a0003c0008 a0003c0024 a0003c0025 a0003c0026 a0003c0037 a0003c0038 a0003c0039 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0003c0062 a0003c0063 a0003c0064 a0003c0120 a0003c0121 a0003c0122 a0003c0123 a0003c0124 a0003c0125 a0003c0126 a0003c0127 a0003c0128 a0003c0129 a0050c0054	a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 others(24): Show a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 a0003c0026t0002 a0003c0037t0002 a0003c0038t0002 a0003c0039t0002 a0003c0056t0002 a0003c0057t0002 a0003c0058t0010 a0003c0059t0002 a0003c0060t0002 a0003c0061t0002 a0003c0062t0002 a0003c0063t0002 a0003c0064t0002 a0003c0120t0002 a0003c0121t0002 a0003c0122t0002 a0003c0123t0002 a0003c0124t0002 a0003c0125t0002 a0003c0126t0002 a0003c0127t0002 a0003c0128t0002 a0003c0129t0002 a0050c0054t0002	a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 others(33): Show a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 a0003c0008t0002g0068 a0003c0008t0002g0069 a0003c0024t0002g0050 a0003c0024t0002g0051 a0003c0025t0002g0062 a0003c0025t0002g0067 a0003c0026t0002g0007 a0003c0037t0002g0060 a0003c0037t0002g0061 a0003c0038t0002g0057 a0003c0038t0002g0074 a0003c0039t0002g0072 a0003c0039t0002g0073 a0003c0056t0002g0006 a0003c0057t0002g0046 a0003c0058t0010g0071 a0003c0059t0002g0006 a0003c0060t0002g0065 a0003c0061t0002g0064 a0003c0062t0002g0070 a0003c0063t0002g0052 a0003c0064t0002g0053 a0003c0120t0002g0054 a0003c0121t0002g0047 a0003c0122t0002g0056 a0003c0123t0002g0042 a0003c0124t0002g0043 a0003c0125t0002g0058 a0003c0126t0002g0059 a0003c0127t0002g0048 a0003c0128t0002g0049 a0003c0129t0002g0055 a0050c0054t0002g0044	37	384	0.0964	0	c.121 others(4): Show c.1218G>A	p.Trp others(4): Show p.Trp406*	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/64	1476/9914	1218/9291	406/3096		chr17	TogoVar
MYO7A_chr11_77123246_77220241	77179796	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show HG00639.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp2	a0005 a0008 a0015 others(1): Show a0005 a0008 a0015 a0043	a0005c0008 a0005c0017 a0005c0026 others(35): Show a0005c0008 a0005c0017 a0005c0026 a0005c0032 a0005c0040 a0005c0050 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0005c0055 a0005c0056 a0005c0057 a0005c0058 a0005c0059 a0005c0078 a0005c0079 a0005c0080 a0005c0081 a0005c0095 a0005c0096 a0008c0021 a0008c0035 a0008c0036 a0008c0098 a0008c0099 a0008c0100 a0008c0109 a0008c0110 a0008c0111 a0008c0112 a0008c0113 a0008c0114 a0008c0115 a0008c0129 a0015c0045 a0015c0046 a0043c0094	a0005c0008t0001 a0005c0017t0001 a0005c0026t0001 others(35): Show a0005c0008t0001 a0005c0017t0001 a0005c0026t0001 a0005c0032t0001 a0005c0040t0004 a0005c0050t0001 a0005c0051t0001 a0005c0052t0001 a0005c0053t0001 a0005c0054t0001 a0005c0055t0001 a0005c0056t0001 a0005c0057t0001 a0005c0058t0001 a0005c0059t0001 a0005c0078t0001 a0005c0079t0001 a0005c0080t0001 a0005c0081t0001 a0005c0095t0008 a0005c0096t0001 a0008c0021t0001 a0008c0035t0001 a0008c0036t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0002 a0008c0109t0001 a0008c0110t0001 a0008c0111t0001 a0008c0112t0001 a0008c0113t0001 a0008c0114t0001 a0008c0115t0001 a0008c0129t0001 a0015c0045t0001 a0015c0046t0001 a0043c0094t0001	a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 others(51): Show a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 a0005c0008t0001g0086 a0005c0008t0001g0113 a0005c0008t0001g0285 a0005c0008t0001g0322 a0005c0017t0001g0042 a0005c0017t0001g0135 a0005c0017t0001g0312 a0005c0017t0001g0316 a0005c0026t0001g0202 a0005c0026t0001g0334 a0005c0032t0001g0005 a0005c0032t0001g0222 a0005c0040t0004g0330 a0005c0050t0001g0119 a0005c0051t0001g0303 a0005c0052t0001g0254 a0005c0053t0001g0250 a0005c0054t0001g0140 a0005c0055t0001g0339 a0005c0056t0001g0307 a0005c0057t0001g0132 a0005c0058t0001g0256 a0005c0059t0001g0244 a0005c0078t0001g0074 a0005c0079t0001g0070 a0005c0080t0001g0127 a0005c0081t0001g0051 a0005c0095t0008g0337 a0005c0096t0001g0062 a0008c0021t0001g0149 a0008c0021t0001g0154 a0008c0021t0001g0184 a0008c0021t0001g0185 a0008c0035t0001g0143 a0008c0035t0001g0301 a0008c0036t0001g0102 a0008c0036t0001g0291 a0008c0098t0001g0271 a0008c0099t0001g0191 a0008c0100t0002g0225 a0008c0109t0001g0321 a0008c0110t0001g0167 a0008c0111t0001g0150 a0008c0112t0001g0232 a0008c0113t0001g0145 a0008c0114t0001g0273 a0008c0115t0001g0269 a0008c0129t0001g0235 a0015c0045t0001g0003 a0015c0046t0001g0326 a0043c0094t0001g0134	54	356	0.1517	1	c.243 others(5): Show c.2431dupC	p.Arg others(5): Show p.Arg811fs	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	21/49	2722/7483	2432/6648	811/2215	INFO_REALIGN_3_PRIME	chr11	TogoVar
MYORG_chr9_34361666_34381898	34372875	G G	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show HG00099.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03927.hp1 HG03942.hp2 NA18945.hp2 NA18948.hp2 NA18953.hp2 NA18956.hp2 NA18966.hp2 NA18982.hp1 NA18984.hp1 NA18999.hp2 NA19011.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0004c0005 a0004c0015 others(1): Show a0004c0004 a0004c0005 a0004c0015 a0006c0018	a0004c0004t0003 a0004c0004t0018 a0004c0004t0037 others(4): Show a0004c0004t0003 a0004c0004t0018 a0004c0004t0037 a0004c0004t0038 a0004c0005t0003 a0004c0015t0003 a0006c0018t0003	a0004c0004t0003g0005 a0004c0004t0003g0021 a0004c0004t0003g0034 others(10): Show a0004c0004t0003g0005 a0004c0004t0003g0021 a0004c0004t0003g0034 a0004c0004t0003g0035 a0004c0004t0003g0063 a0004c0004t0018g0029 a0004c0004t0037g0064 a0004c0004t0038g0065 a0004c0005t0003g0006 a0004c0005t0003g0027 a0004c0005t0003g0028 a0004c0015t0003g0076 a0006c0018t0003g0062	59	452	0.1305	0	c.69C others(2): Show c.69C>G	p.Tyr others(3): Show p.Tyr23*	MYORG	ENSG00000164976.9	transcript	ENST00000297625.8	protein_coding	2/2	238/6447	69/2145	23/714		chr9	TogoVar
MYPOP_chr19_45885023_45907613	45891133	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG01099.hp2 HG01175.hp1 others(18): Show HG00438.hp2 HG01099.hp2 HG01175.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG02809.hp1 HG03098.hp1 HG03927.hp1 HG03927.hp2 NA18969.hp1 NA18979.hp1 NA18991.hp2 NA19009.hp2 NA19068.hp2 NA19078.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0002c0009 a0002c0013 others(3): Show a0002c0005 a0002c0009 a0002c0013 a0002c0014 a0002c0023 a0005c0017	a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 others(4): Show a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 a0002c0013t0001 a0002c0014t0001 a0002c0023t0001 a0005c0017t0001	a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 others(17): Show a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 a0002c0005t0001g0076 a0002c0005t0001g0116 a0002c0005t0001g0143 a0002c0005t0001g0171 a0002c0005t0001g0177 a0002c0005t0001g0184 a0002c0005t0007g0161 a0002c0009t0001g0097 a0002c0009t0001g0099 a0002c0009t0001g0104 a0002c0009t0001g0159 a0002c0013t0001g0059 a0002c0013t0001g0061 a0002c0014t0001g0130 a0002c0014t0001g0134 a0002c0023t0001g0094 a0005c0017t0001g0062	21	408	0.0515	1	c.689 others(4): Show c.689dupC	p.Pro others(5): Show p.Pro231fs	MYPOP	ENSG00000176182.6	transcript	ENST00000322217.6	protein_coding	3/3	785/1896	689/1200	230/399		chr19	TogoVar
MZT2A_chr2_131478960_131497397	131492343	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp2 HG01074.hp2 HG01175.hp2 others(31): Show HG01069.hp2 HG01074.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01943.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG06807.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(2): Show a0002c0002 a0002c0004 a0002c0006 a0002c0009 a0002c0010	a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 others(2): Show a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 a0002c0009t0001 a0002c0010t0001	a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 others(14): Show a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0004t0001g0013 a0002c0006t0001g0018 a0002c0006t0001g0111 a0002c0009t0001g0101 a0002c0009t0001g0102 a0002c0010t0001g0104 a0002c0010t0001g0105	34	390	0.0872	-1	c.33d others(3): Show c.33delG	p.Ser others(4): Show p.Ser12fs	MZT2A	ENSG00000173272.16	transcript	ENST00000309451.7	protein_coding	1/3	54/599	33/477	11/158		chr2	TogoVar
NANOGP8_chr15_35078410_35090295	35084193	TCA TCA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG01099.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01891.hp2 HG02300.hp2 HG02622.hp2 HG02630.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0006 a0000c0005t0044 a0000c0005t0049 a0000c0005t0006 a0000c0005t0044 a0000c0005t0049	a0000c0005t0006g0000 a0000c0005t0044g0000 a0000c0005t0049g0000 a0000c0005t0006g0000 a0000c0005t0044g0000 a0000c0005t0049g0000	16	476	0.0336	-2	c.916 others(9): Show c.916_917delTG	p.Ter others(5): Show p.Ter306fs	NANOGP8	ENSG00000255192.7	transcript	ENST00000528386.4	protein_coding	1/1	1102/1886	916/918	306/305		chr15	TogoVar
NBPF10_chr1_146059711_146149804	146126409	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18968.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0002 a0003 a0005 others(116): Show a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0133 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0210 a0211 a0212 a0213	a0002c0002 a0003c0003 a0005c0072 others(126): Show a0002c0002 a0003c0003 a0005c0072 a0005c0073 a0005c0074 a0005c0075 a0006c0005 a0008c0006 a0009c0046 a0009c0060 a0009c0061 a0010c0009 a0011c0007 a0012c0008 a0015c0056 a0015c0057 a0016c0011 a0017c0012 a0018c0049 a0018c0050 a0019c0063 a0019c0064 a0020c0013 a0021c0070 a0021c0071 a0022c0014 a0023c0077 a0023c0078 a0024c0015 a0025c0016 a0026c0017 a0027c0018 a0028c0019 a0029c0020 a0042c0032 a0043c0034 a0044c0035 a0045c0041 a0046c0040 a0047c0039 a0048c0042 a0049c0043 a0050c0045 a0051c0051 a0052c0053 a0053c0055 a0054c0052 a0055c0054 a0056c0058 a0057c0059 a0058c0044 a0059c0047 a0060c0062 a0061c0048 a0062c0036 a0063c0037 a0064c0038 a0065c0033 a0066c0085 a0067c0065 a0068c0066 a0069c0067 a0070c0084 a0071c0068 a0072c0069 a0073c0076 a0074c0079 a0075c0080 a0076c0081 a0077c0082 a0078c0083 a0080c0090 a0081c0095 a0082c0093 a0083c0094 a0084c0092 a0085c0091 a0086c0096 a0094c0139 a0095c0105 a0096c0108 a0097c0121 a0098c0111 a0099c0110 a0100c0112 a0101c0113 a0102c0114 a0103c0142 a0104c0115 a0105c0103 a0106c0118 a0107c0117 a0108c0119 a0109c0116 a0110c0120 a0111c0123 a0112c0122 a0113c0124 a0114c0125 a0115c0109 a0116c0107 a0117c0106 a0118c0127 a0119c0128 a0120c0135 a0121c0134 a0122c0133 a0123c0130 a0124c0129 a0125c0131 a0126c0132 a0127c0126 a0128c0136 a0129c0137 a0130c0138 a0131c0104 a0132c0141 a0133c0140 a0134c0143 a0135c0144 a0136c0145 a0137c0146 a0138c0149 a0139c0147 a0140c0148 a0210c0086 a0211c0088 a0212c0087 a0213c0089	a0002c0002t0001 a0003c0003t0001 a0003c0003t0021 others(129): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0021 a0005c0072t0001 a0005c0073t0001 a0005c0074t0001 a0005c0075t0001 a0006c0005t0002 a0008c0006t0001 a0009c0046t0001 a0009c0060t0001 a0009c0061t0001 a0010c0009t0002 a0011c0007t0002 a0012c0008t0002 a0015c0056t0001 a0015c0057t0001 a0016c0011t0001 a0017c0012t0001 a0018c0049t0001 a0018c0050t0001 a0019c0063t0023 a0019c0064t0020 a0020c0013t0001 a0020c0013t0022 a0021c0070t0001 a0021c0071t0001 a0022c0014t0001 a0023c0077t0001 a0023c0078t0001 a0024c0015t0001 a0024c0015t0018 a0025c0016t0001 a0026c0017t0001 a0027c0018t0002 a0028c0019t0002 a0029c0020t0001 a0042c0032t0001 a0043c0034t0001 a0044c0035t0001 a0045c0041t0001 a0046c0040t0001 a0047c0039t0001 a0048c0042t0001 a0049c0043t0001 a0050c0045t0001 a0051c0051t0001 a0052c0053t0001 a0053c0055t0001 a0054c0052t0001 a0055c0054t0001 a0056c0058t0001 a0057c0059t0001 a0058c0044t0001 a0059c0047t0001 a0060c0062t0001 a0061c0048t0001 a0062c0036t0001 a0063c0037t0001 a0064c0038t0001 a0065c0033t0001 a0066c0085t0001 a0067c0065t0019 a0068c0066t0001 a0069c0067t0001 a0070c0084t0001 a0071c0068t0001 a0072c0069t0001 a0073c0076t0001 a0074c0079t0001 a0075c0080t0001 a0076c0081t0001 a0077c0082t0001 a0078c0083t0001 a0080c0090t0005 a0081c0095t0005 a0082c0093t0005 a0083c0094t0005 a0084c0092t0005 a0085c0091t0005 a0086c0096t0005 a0094c0139t0002 a0095c0105t0005 a0096c0108t0002 a0097c0121t0002 a0098c0111t0002 a0099c0110t0002 a0100c0112t0002 a0101c0113t0002 a0102c0114t0002 a0103c0142t0002 a0104c0115t0002 a0105c0103t0005 a0106c0118t0002 a0107c0117t0002 a0108c0119t0002 a0109c0116t0010 a0110c0120t0002 a0111c0123t0002 a0112c0122t0002 a0113c0124t0002 a0114c0125t0002 a0115c0109t0002 a0116c0107t0002 a0117c0106t0002 a0118c0127t0002 a0119c0128t0002 a0120c0135t0002 a0121c0134t0002 a0122c0133t0002 a0123c0130t0002 a0124c0129t0002 a0125c0131t0002 a0126c0132t0002 a0127c0126t0002 a0128c0136t0002 a0129c0137t0002 a0130c0138t0002 a0131c0104t0002 a0132c0141t0005 a0133c0140t0005 a0134c0143t0017 a0135c0144t0001 a0136c0145t0001 a0137c0146t0001 a0138c0149t0001 a0139c0147t0001 a0140c0148t0001 a0210c0086t0002 a0211c0088t0002 a0212c0087t0002 a0213c0089t0002	a0002c0002t0001g0001 a0002c0002t0001g0064 a0002c0002t0001g0065 others(150): Show a0002c0002t0001g0001 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0021g0057 a0005c0072t0001g0073 a0005c0073t0001g0043 a0005c0074t0001g0075 a0005c0075t0001g0076 a0006c0005t0002g0004 a0006c0005t0002g0133 a0006c0005t0002g0134 a0008c0006t0001g0018 a0008c0006t0001g0019 a0008c0006t0001g0020 a0009c0046t0001g0084 a0009c0060t0001g0033 a0009c0061t0001g0040 a0010c0009t0002g0123 a0010c0009t0002g0124 a0010c0009t0002g0125 a0011c0007t0002g0102 a0011c0007t0002g0112 a0011c0007t0002g0126 a0012c0008t0002g0003 a0012c0008t0002g0105 a0015c0056t0001g0013 a0015c0057t0001g0034 a0016c0011t0001g0014 a0016c0011t0001g0015 a0017c0012t0001g0029 a0017c0012t0001g0030 a0018c0049t0001g0026 a0018c0050t0001g0035 a0019c0063t0023g0082 a0019c0064t0020g0080 a0020c0013t0001g0044 a0020c0013t0022g0071 a0021c0070t0001g0051 a0021c0071t0001g0052 a0022c0014t0001g0063 a0022c0014t0001g0069 a0023c0077t0001g0050 a0023c0078t0001g0055 a0024c0015t0001g0011 a0024c0015t0018g0047 a0025c0016t0001g0042 a0025c0016t0001g0062 a0026c0017t0001g0045 a0026c0017t0001g0046 a0027c0018t0002g0002 a0028c0019t0002g0131 a0028c0019t0002g0132 a0029c0020t0001g0005 a0042c0032t0001g0008 a0043c0034t0001g0086 a0044c0035t0001g0028 a0045c0041t0001g0079 a0046c0040t0001g0078 a0047c0039t0001g0081 a0048c0042t0001g0021 a0049c0043t0001g0027 a0050c0045t0001g0025 a0051c0051t0001g0031 a0052c0053t0001g0083 a0053c0055t0001g0077 a0054c0052t0001g0085 a0055c0054t0001g0032 a0056c0058t0001g0017 a0057c0059t0001g0023 a0058c0044t0001g0016 a0059c0047t0001g0038 a0060c0062t0001g0012 a0061c0048t0001g0024 a0062c0036t0001g0037 a0063c0037t0001g0036 a0064c0038t0001g0039 a0065c0033t0001g0022 a0066c0085t0001g0010 a0067c0065t0019g0061 a0068c0066t0001g0048 a0069c0067t0001g0070 a0070c0084t0001g0072 a0071c0068t0001g0074 a0072c0069t0001g0053 a0073c0076t0001g0009 a0074c0079t0001g0060 a0075c0080t0001g0066 a0076c0081t0001g0041 a0077c0082t0001g0049 a0078c0083t0001g0068 a0080c0090t0005g0091 a0081c0095t0005g0160 a0082c0093t0005g0162 a0083c0094t0005g0161 a0084c0092t0005g0159 a0085c0091t0005g0157 a0086c0096t0005g0158 a0094c0139t0002g0115 a0095c0105t0005g0139 a0096c0108t0002g0096 a0097c0121t0002g0156 a0098c0111t0002g0122 a0099c0110t0002g0116 a0100c0112t0002g0109 a0101c0113t0002g0106 a0102c0114t0002g0093 a0103c0142t0002g0094 a0104c0115t0002g0127 a0105c0103t0005g0140 a0106c0118t0002g0092 a0107c0117t0002g0103 a0108c0119t0002g0104 a0109c0116t0010g0120 a0110c0120t0002g0107 a0111c0123t0002g0137 a0112c0122t0002g0101 a0113c0124t0002g0119 a0114c0125t0002g0108 a0115c0109t0002g0117 a0116c0107t0002g0118 a0117c0106t0002g0114 a0118c0127t0002g0110 a0119c0128t0002g0135 a0120c0135t0002g0129 a0121c0134t0002g0128 a0122c0133t0002g0130 a0123c0130t0002g0121 a0124c0129t0002g0099 a0125c0131t0002g0097 a0126c0132t0002g0111 a0127c0126t0002g0095 a0128c0136t0002g0113 a0129c0137t0002g0136 a0130c0138t0002g0098 a0131c0104t0002g0100 a0132c0141t0005g0138 a0133c0140t0005g0155 a0134c0143t0017g0149 a0135c0144t0001g0148 a0136c0145t0001g0154 a0137c0146t0001g0153 a0138c0149t0001g0151 a0139c0147t0001g0150 a0140c0148t0001g0152 a0210c0086t0002g0087 a0211c0088t0002g0089 a0212c0087t0002g0088 a0213c0089t0002g0090	158	283	0.5583	0	c.185 others(6): Show c.1854-1C>G		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	13/89					chr1	TogoVar
NBPF11_chr1_148097151_148157281	148105470	C C	CATCT CATCT	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0000 a0002 a0000 a0002	a0000c0002 a0000c0003 a0000c0004 others(17): Show a0000c0002 a0000c0003 a0000c0004 a0000c0006 a0000c0008 a0000c0009 a0000c0013 a0000c0014 a0000c0019 a0000c0022 a0000c0023 a0000c0031 a0000c0034 a0000c0037 a0000c0038 a0000c0039 a0000c0040 a0000c0041 a0002c0015 a0002c0021	a0000c0002t0002 a0000c0002t0014 a0000c0002t0018 others(25): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0018 a0000c0002t0040 a0000c0002t0041 a0000c0002t0042 a0000c0003t0003 a0000c0004t0004 a0000c0004t0024 a0000c0006t0007 a0000c0006t0023 a0000c0008t0002 a0000c0009t0008 a0000c0013t0010 a0000c0014t0003 a0000c0019t0003 a0000c0022t0002 a0000c0023t0002 a0000c0031t0039 a0000c0034t0020 a0000c0037t0002 a0000c0038t0002 a0000c0039t0017 a0000c0040t0017 a0000c0041t0002 a0002c0015t0011 a0002c0021t0029 a0002c0021t0034	a0000c0002t0002g0001 a0000c0002t0002g0007 a0000c0002t0002g0008 others(145): Show a0000c0002t0002g0001 a0000c0002t0002g0007 a0000c0002t0002g0008 a0000c0002t0002g0009 a0000c0002t0002g0010 a0000c0002t0002g0294 a0000c0002t0002g0295 a0000c0002t0002g0296 a0000c0002t0002g0297 a0000c0002t0002g0299 a0000c0002t0002g0300 a0000c0002t0002g0301 a0000c0002t0002g0305 a0000c0002t0002g0306 a0000c0002t0002g0308 a0000c0002t0002g0309 a0000c0002t0002g0312 a0000c0002t0002g0313 a0000c0002t0002g0317 a0000c0002t0002g0318 a0000c0002t0002g0320 a0000c0002t0002g0322 a0000c0002t0002g0323 a0000c0002t0002g0325 a0000c0002t0002g0326 a0000c0002t0002g0327 a0000c0002t0002g0328 a0000c0002t0002g0329 a0000c0002t0002g0330 a0000c0002t0002g0333 a0000c0002t0002g0334 a0000c0002t0002g0335 a0000c0002t0002g0336 a0000c0002t0002g0337 a0000c0002t0002g0338 a0000c0002t0002g0339 a0000c0002t0002g0340 a0000c0002t0002g0342 a0000c0002t0002g0344 a0000c0002t0002g0345 a0000c0002t0002g0346 a0000c0002t0002g0347 a0000c0002t0002g0348 a0000c0002t0002g0349 a0000c0002t0002g0350 a0000c0002t0002g0351 a0000c0002t0002g0352 a0000c0002t0002g0353 a0000c0002t0002g0354 a0000c0002t0002g0355 a0000c0002t0002g0357 a0000c0002t0002g0358 a0000c0002t0002g0359 a0000c0002t0002g0360 a0000c0002t0002g0361 a0000c0002t0002g0364 a0000c0002t0002g0365 a0000c0002t0002g0366 a0000c0002t0002g0368 a0000c0002t0002g0371 a0000c0002t0002g0372 a0000c0002t0002g0373 a0000c0002t0014g0302 a0000c0002t0014g0303 a0000c0002t0014g0304 a0000c0002t0018g0310 a0000c0002t0018g0311 a0000c0002t0040g0298 a0000c0002t0041g0363 a0000c0002t0042g0324 a0000c0003t0003g0261 a0000c0003t0003g0262 a0000c0003t0003g0263 a0000c0003t0003g0264 a0000c0003t0003g0268 a0000c0003t0003g0269 a0000c0003t0003g0270 a0000c0003t0003g0271 a0000c0003t0003g0274 a0000c0003t0003g0275 a0000c0003t0003g0276 a0000c0003t0003g0277 a0000c0003t0003g0278 a0000c0003t0003g0279 a0000c0003t0003g0280 a0000c0003t0003g0281 a0000c0003t0003g0282 a0000c0004t0004g0242 a0000c0004t0004g0243 a0000c0004t0004g0244 a0000c0004t0004g0246 a0000c0004t0004g0247 a0000c0004t0004g0248 a0000c0004t0004g0249 a0000c0004t0004g0250 a0000c0004t0004g0251 a0000c0004t0004g0252 a0000c0004t0004g0253 a0000c0004t0004g0254 a0000c0004t0024g0245 a0000c0006t0007g0030 a0000c0006t0007g0031 a0000c0006t0007g0032 a0000c0006t0007g0033 a0000c0006t0007g0034 a0000c0006t0007g0035 a0000c0006t0007g0036 a0000c0006t0007g0037 a0000c0006t0007g0039 a0000c0006t0023g0038 a0000c0008t0002g0314 a0000c0008t0002g0316 a0000c0008t0002g0319 a0000c0008t0002g0331 a0000c0008t0002g0332 a0000c0008t0002g0343 a0000c0008t0002g0370 a0000c0009t0008g0023 a0000c0009t0008g0024 a0000c0009t0008g0025 a0000c0009t0008g0026 a0000c0009t0008g0027 a0000c0009t0008g0260 a0000c0013t0010g0287 a0000c0013t0010g0288 a0000c0013t0010g0289 a0000c0013t0010g0290 a0000c0014t0003g0265 a0000c0014t0003g0266 a0000c0014t0003g0267 a0000c0019t0003g0272 a0000c0019t0003g0273 a0000c0022t0002g0356 a0000c0022t0002g0362 a0000c0023t0002g0315 a0000c0023t0002g0341 a0000c0031t0039g0369 a0000c0034t0020g0013 a0000c0037t0002g0321 a0000c0038t0002g0307 a0000c0039t0017g0285 a0000c0040t0017g0286 a0000c0041t0002g0367 a0002c0015t0011g0019 a0002c0015t0011g0020 a0002c0015t0011g0021 a0002c0021t0029g0236 a0002c0021t0034g0283	156	388	0.4021	4	c.236 others(13): Show c.2361_2362insAGAT	p.Val others(5): Show p.Val788fs	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	22/24	3441/5423	2361/2598	787/865		chr1	TogoVar
NBPF12_chr1_146933324_147001198	146963870	CACTGGAG others(6283): Show CACTGGAGCACTCCCCATGGATAGAATGTCCCTGAATAACACAGCAGAAG CCACATGGAGGGCCTGTGCAGTCTCATGACGAATAGAGGACTGTGGGACA AGTTTGTCCTCTCCTAAGAGAAAGAATGAGGTTTGAAATGCGAACTGTGA CAGGACACCAAGCCTGTTCCTGGGAATCAGATCTGTGGCAGGATGGGGGA GACAGCTGCCAAAGTCCAGAGAGAGGCTGCACAAGCCTTCAGTGATATGG GAAGCAAAAGGTCTTTTCAGTATTTGGCCACATCTTGATGGTGGCCCTCC ACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGCCAGAGCATTT TGTGAAGGATAAAACATGAGAGTTTTCAGTACAATGCTGAACCATACATA GATGTTCATGTCTCTGTGCACGTTGGGCTGACTGTGCTTGCAGAATGTGA AGTGGGACATATCTGAATGAACATTTTGTATTTATAGAAAATGATGAAGA TGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTACTGGAATCAT CTGCCCCCAGGTAACACTGAATACTCAGGAGCAAGTAATGGGTGGTAACA TATGAAAATGTCTAGAAGGCACACCCTCTCTGGCATCTATGGTGGGCCAA AAGCCCGCATTCCCTTGGCCACAGTATGTGAAATTCAACCCAGCTTAGAC ACAGGGTGCGACAGCTGTCATGTTTCTCTATGTGTGCCAAGTGTCATGTC TGTACCATACAGGGATAGCTGAGTCTTCATCCTCCTCAGCTCCTATCTGT CCAGTGCACTGAACACCAGCTGCTCTCTTCCTCTCTGGCTCCCATGGCAG CCATGCTCTGTTGCAGAGAGAAGAGGATTGCCTGTTCCCTCTTTAAGGGA ACCTCCATTTTGCTTTCTGGGACCACTCTCTTAATGCCGCCTGTCAAAAC CAGCTAGGACTCCCTGGGGTCCAATCCCTCTGTGTTTAATCTTCTGTCAT CTCTGTCCCACCTGGCTCATCAGGGAGGTGCAGAAGGCTGAAGAGAGCAA AGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTCAAATAGCC ACGGCCCTTGTGACTCCATCCAGCCTCACAAGAACATCAAAATCACATTT GAGGAAGACAAAGTCAACTCAACTGTGGTTGTAGACAGAAAATCCTCTCA TGATGAATGTCAGGATGCTCTAAACATTCTCCCAGGTAGCCTCTATTTTC CTTGTGTCTCATACCTCTGTCTAGGCTATGGAAGATCAATTCTGAGGACA GGCTGTATATACACATATTGTTATTGTTTTAGTCAGAAACTAGGATGGAG CTAGGTGCTGTGACTCACACATATAATCACAGCACTTTGGAAGGCCCAAG TGGGAGGATGACTTGAGTTCAGGAGTTGAAGACCAGCCTGGAGTATATGG TGAAACCCATCTTTACGAAGAATACAAAAAATTAGGCAGTCATGGTGCTG CGTGCCTATAGTCCCAACTGCTCAGGAGACTTAGGTGGGAGGATGGGCTG AGATGATCCTCCCACCCTCATTCACTTCTGTCAGGCTAGACTCTCTTTTT CATTGGCTTGTCTTAGCTATTAATAAGTCTTGGCTGGGCACAGTGGGTTC CACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGT CAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTA AAAATACAAAAAAAAAAAAAAAATTAGCTGGGCGCGGTGGTGGGCACCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGG AACCGGATCTTGCAGTGAGCCGAGATTGTGGCACTGCACTCCAGCCTGGG AGACAGAGCGAGACTGCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGTCTCTGACCAGGGGCGCTGGCTCACATCTTAATCCCAGCACTTTGAGA GGCCGAGGTGGGCGGAACACCTGAGCTCAGGAGATCGAAACCAGCCTGTC CAAGATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTCAT GTTACTTGGCGCTTGTAATCCCAGATGCTTGGCAGGCTGAGTGATGAGAA TCGCTTGAACCCGGGAGGCAGAGGTGGCAGTGAGCTGAGATTGTGCCTCT GCACTGCAGCCTGCGCGACAGAGTGAGACTCCGTCTCAAACAGAAAACAA AAAACCAAAAAAGAAAAAAATTAAAAAAGCAAAATGAAATCTTTTGTGCT ACACAGAAACATTGGCCACTCATGGGATAAAAATCTCAGGGCCAAGCCTT GCTTTATAGAAACGTATAAGCAAGAAAAGTGTAGAAGTGTTTATGTCCTG CTTTAAAGGTGACTGCATAGCTAAGACAAGTTGACTTAAAGGAGATCAAG ACTGGAGATGACAAGAGTGAAACCAGGGAAACATCATCTTCGAATAAGTA CACAAGGCTGCCAGTGACATCCCTCAGTCCTGATTAAGCCTACTTGATTT CACCAGTTTTTAACCCATCATGTGTTTGCCTTTCTTCTCCCCAGTCCCTG GCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCT TTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAGAAGTT GCGCCCCCAGCTGGCAGAGAAGAAACAGCAGTTCAGAAGCCTCAAAGAGA AATGTTTTGTAACTCAACTGGCCGGCTTCCTGGCCAAGCAGCAGAACAAA TACAGTAAGATCTACAGGCTCACCATCACGAAAGTGATGAACAACGTCCT GTCTTCTCTCTGAGAAACTAAGTGCTCTCTCCATCAAAAATAATGTCATC CTCCCCATACTTCTAGGAAAACAGAAATGGGTATTTTAACATTTTGTTAA AGTTGGAAGACAGAGGTACCAAAGTATTTAGCAACTTTCCATGTTTGCAA TCAGGTGGGGGTGGGACTAGAGTTAAACTGCCATTTATTGATTTCTGACA CCGGCACAGAATGACCTGTTTTCTCCAAGAGGCTCAATCGTGTTTTCAAG AATCCTCTCTGTGCCACATAAGATCCTGCAGACAAATAACATCTAGTCTG TTGTTCTAAATATCTGAGACTAGTGAACTTTTATTCAGTCCAAGTTTCTG TTGAGGCCCAATACGCAAAGCTCTGTTCTAGTGACTCTGAGGGAAACTTG GTGATAGTAGCCAGTACCCGCTCTGAGGGGCTTCAAGAGGAGTCTGCTCC TAATAGAACCTGTGCTATCTATAAGTGACAGCATCAAGAGCAGGGAGTAG GGGCCGTGCATGGTGGCTCACTCCTGTAATCCCAGCCCTTTGGGAGGCTG AGGCGAGTAGAGCACGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATG GAGAAACCCCATCTCCACTAAAAATACAAAAAGTAGATGGGCGTGGTGGC AGGTGACTGTAATCACTCCTGCTCAGGAGGCTGAGGCAGTAGAATCCTTT GAACCCAGGAGGCTGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTC CAGCCTGGGTGACAGGGCAAGACTGTTAAAAAAAAATAATAATGATAAAT AAAAATAAGAATAAAAAGCAGAGAGTAGCTTGGTGAGAGTGAAGTCCTGC TTCCTGGGGCACAGAGTCTTGTTCCTAAAGAGGAAGAAAGATCGCACCCG AGAATGTGTGGAGGTAGCAGTGCAGTGTACAGAGCAGGGACCGTGGGCCT GTCTCCTGGGCTCCATCCAAGGTGCTTGTCTTGTCTGTCCCTCAGTTTCC TCACCTGTTCAGAGGGTACTACAATAATACCTACCTCTGTAAATTGCTAC AGTGAATTACATGAGCTATTTCTTGTCAATCTCATAGAACGTTTATTGGC ACAGAGTAAACACTATTAGTTCTTCATTCTGTTGTTTCTAAATTAACAGA AACTTCATTAGCATTTGGGCATAGGATTTCCTTCATGGCCTTATGGTGTT ATGTGTCACACTTTATGCTTCAGATATGATTCTTAAAATCATAACTGAAG ATATGATTAAAAAATCAAAGATTTTTAAAATCTTTCACATACTTGTCCTT GAAATTCCCAGTAAAAGGGAAACCATCAGTCCCATAGTCCTAGGGGCCTT CCCGACTGTACAAGAAATCACTACTTCATGCCCCAGTGCAGTGTTTTAGA GGAGAGGCTGCAAGTCTTGGGAAAGTGGCCCCGAATTCAGAGTCAGACCT CAGGGACTGTGAATTCTGACTCCACTTCGTTGTGGTTGAATCATCTTGTC AACTTCCTTGATGTGCCCTTGAGGTTCTCTTTCTTCATCTCTAAATTTTG GAGGATCAGATGCCAGAAAGTCAGGAGACTGAAGAGTAAAGACGTGGAAA TCCCTGTCTAGACCCTGGTACTGTGGAGAGTTTTGTCCTTGGGATGGACC TGGCTCCTGCCCTGTAGGCAATGACCACAGCAGCATGTCCAGCCTTCCAC TGATGCAGGCGTGTCTGTCTTTTCTCAGAATATGAAGAGTGCAAAGACCT CATAAAATCTATGCTGAGGAATGAGCTACAGTTCAAGGAGGAGAAGCTTG CAGAGCAGCTGAAGCAAGCTGAGGAGCTCAGGTGAGGGGACCCCATGGGG GCAGGCAGGGGGGCAGGTGTGTAAATCTCTGAAGTACAACAGCTCGGTGG GGAGACTTAAGAGCTAAGCTGGGCCAGGGGAAGGGCAGGAATTGCCATGG CAGGCTCGCTACACACAAATATTTATCAAACAGAGAAGAAGGATAATAAA AATTTATGGGTTGCAGTTGTTTCTCAGAGCCTTGTTTTCTCTTTTTCAAA CAAGTAATTGTTGATGTGAAATTTACATAACACAAAATTAACCAAAGGAG TGTGAACCACACAGCAGCATTCAGTATACTCAAAATGGTGTGCCATCACG ACCCCACTTACCCTTAGTGAGAATCACCTCCTGACTGACTGCGGCTTCTC ATTCTTTCACTCAATGTTGCCTTCTCGACCCTGTCATTCTTTTCTTCTTT CATCTTTTCAATTCACCCCATCTGCATCTGGCCTCATTTCTGTACATGGC TTTGTGTCTAGTGGCCGCAAGATGCACTATGTGTATTTTCACATGGAAAT GTCCATGGCCAGAGTGAGGAACTGAAAGGATGTCTTTTTGAAACGGAATT AGGAAGACACCTACTTTTGTTTACAGAAGGGAAAGATGAATGGAACATCA TCGAGGATCTTGCAGGAGCCCTCTCTGATACAGAGGAAGCCTGTAAACCA TTTTCTCTTCTTTCTCTTGGCCACAGTCATTCCTTTCAACATGTGCTGAC CTTCTGCTTGGAGGTCTCCTTGAGGACATTGTCTCAGAAATCTCTGTTGC AATATTTGAACGGATCACTCAACCCTTTCCACTCTTAAATTTTCTCTACC GTCTCACCTTAGGCAATATAAAGTCCTGGTTCACTCTCAGGAACGAGAGC TGACCCAGTTAAGGGAGAAGTTACGGGAAGGGAGAGATGCCTCCCGCTCA TTGAATGAGCATCTCCAGGCCCTCCTCACTCCGGATGAGCCGGACAAGTC CCAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGGTGTAGACTGGCAC AGCACCTTGTCCAAAAGCTCAGCCCAGGTAAGGTGGCCACAGGCCCTGAT GACCCAAAACCCCAGGCTTATGAGAGGCTCCAGACCTCCATACTTTCACA ATGACAGTTGTATCAGTGGGGTTTTTTTCTACTACACATGTGTGGCCATG ACATGACCAGGACTTCCTGGGTAAGAACGGAGATGGGAAACCCATGGGTT TGGAGGTCCCAGTATTGCAAGTGTCCCTCCTTCCTTGATGGAAGGTGGTC TTTGGAGCAAGAGGCAGCATCTATCTAGTTTTAAAGGACAGGAAGGAGGC TGTGATGGGAGGGCGCTTGTTGGAGTGAAAAGAGCTCTGGGCTAAGAATG AAGGTTCCCAGGCTTCTTTTTGGCAATGTTCTTAGTAAGTGTCGGTGAGT GAGTGATTTATCTTTCCAGAGTTTCTCTCTCTCCATCTGCAAAGGCAGAC AAATTGTCTCTTTCAAGGGTCTGAAGCATCCAAATATGGGAACACTTACG AATGCTTTTCAAAATGAGATGAAGCCCCTCTCGGTGTGGTGTTGGGGAAG GCACTTGATGTGGGGGCATTTGGTGGTAGGAAGTGCTTCAG	C C	exon_loss_variant exon_loss_variant	HIGH	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0004 a0013c0012t0004	a0013c0012t0004g0060 a0013c0012t0004g0063 a0013c0012t0004g0060 a0013c0012t0004g0063	2	122	0.0164	-6290	c.494 others(16): Show c.494-249_1307-250del		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	10/37				INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF12_chr1_146933324_147001198	146970102	GGTGTGGT others(6282): Show GGTGTGGTGTTGGGGAAGGCACTTGATGTGGGGGCATTTGGTGGTAGGAA GTGCTTCAGACTGGAGCACTCCCCATGGATAGAATGTCCCTGAATAACAC AGCAGAAGCCACATGGAGGGCCTGTGCAGTCTCATGACGAATAGAGGACT GTGGGACAAGTTTGTCCTCTCCTAAGAGAAAGAATGAGGTTTGAAATGCG AACTGTGACAGGACACCAAGCCTGTTCCTGGGAATCAGATCTGTGGCAGG ATGGGGGAGACAGCTGCCAAAGTCCAGAGAGAGGCTGCACAAGCCTCCAG TGATATGGGAAGCAAAAGGTCTTTTCAGTATTTGGCCACATCTTGATGGT GGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGCCA GGGCATTTTGTGAAAGATAAAACATGAGAGTTTTCAGTACAATGCTGAAC CATACATAGATGTTCATGTCTCTGTGCACGTTGGGCTGACTGTGCTTGCA GAATGTGAAGTGGAAAATATCTGAACGAACATTTTGTATTTATAGAAAAT GATGAAGATGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTGCT GGAATCATCTTCCCCCAGGTGACACTGAATACTCAGGAGCAAGTAATGGG TGTTAACATATGAAAATGTCTAGGAGGCATGCCCTCTCTGGCATCTATGA TGGGCCAAAAGCCCGCATTCCCTTGGCCACAGTATGTGAAATTCAACCCA GCTTAGACACAGGGTGTGGCAGCTGTCGTGTTTCTGTATGTGTGCCAAGT GTCATGTCTGTACCATACAGGGATAGCTGAGTCTTCATCCTCCTCAGCTC CTATTTGTCCAGTGCACTGAACACCAGCTGCTCTCTTCCTCTCTGGCTCC CATGGCAGCCATGCTCTGTTGCAGAGAGAAGAGGATTGCCTGTTCCCTCT TAAAGGGAACCTCCATTTTGCTTTCTGGGACCACTCTCTTAATGCCGCTT GTCAAAACCAGCTAGGACTCCTTGGGGTCCAATCCCTCTGTGTTTAATCT TCTGTCATCTCTGTCCCACCTGGCTCATCAGGGAGATGCAGAAGGCTGAA GAAAGCAAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTC AAATAGCCACGGCCCTTGTGACTCCAACCAGCCTCACAAGAACATCAAAA TCACATTTGAGGAAGACAAAGTCAACTCATCTCTGGTTGTAGACAGAGAA TCCTCTCATGATGAATGTCAGGATGCTCTAAACATTCTCCCAGGTAGCCT CTATTTTCCTTGTGTCTCATACCTCTGTCTAGGCTATGGAAGATCAATTC TGAGGACAGGCTGTATATACACATATTGTTATTGTTTTAGTCAGAAACTA GGATGGAACTAGGTGCTGTGACTCACACATATAATCACAGCACTTTGGAA GGCCCAAGTGGGAGGATGACTTGAGTTCAGGAGTTGAAGACCAGCCTGGA GTATATGGTGAAACCCATCTTTACGAAGAATACAAAAAATTAGGCAGTCA TGGTGCTGCGTGCCTATAGTCCCAACTGCTCAGGAGACTTAGGTGGGAGG ATCGGCTAACACGATCCTCCCACTCTCGTTCACTCCTCTCAGGCTAGACT CTCTCTCCTTTTCATTGGCTTGTCTTAGCTATTAATAAGAAGTCTTGGCC AGGCGCGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAA ACCCCATCTTTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGCG GTGTTGGGTGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCATGAACCCAGGAACCGGATCTTGCAGTGAGCCGAGATTGTGCCACTG CACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAA AAGTAAGTCTCTGACCAGGGGCGCTGGCTCACATCTTAATCCCAGCACTT TGGGAGGCGGAGGTAGGTGGAACACCTGAGGTCAGGAGTTCGAAACCAGC CTGTCCAAGTTGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCT GTCATGTTACTTGGCGCTTGTAATCCCAGATGCTTGGCAGGCTGAGTGAT GAGAATCGCTTGAACCCGGGAGGCAGAGGTGGCAGTGAGCTGAGATTGTG CCTCTGCACTGCAGCCTGCGTGACAGAGTGAGACGCCGTCTCAAACAGAA AACAAAAAACCAAAAAAGAAAAAAATTAAAAAAGCAAAATGAAATCTTTT GTGCTACACAGAAACATTGGCCACTCATGGGGTAAAAATCTCAGGGCCAA GCCTTGCTTTATAGAAACTTATAAGCAAGAAAAGTGTAGAAGTGTTTATG TCCTGGTTTCAAGGTGACTGCATAGCTAAGACAAGTTGACTTAAAGGAGA TCAAGACTGGAGATGACAAGGGTGAAACCAGGGAAACAACATCTTCAAAT AAGTAGACAAGGCTACCAGTGACATCCCTCAGTCCTGATTAAGCCTATTT CATTTCATCAGTTTTTAACCCATCATGTGTTTGCCTTTCTTCTCCCCAGT CCCTGGCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCG GCCCTTTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAG AAGTTGCGCCCCCAGCTGGCAGAGAAGAAACAGCAGTTCAGAAGCCTCAA AGAGAAATGTTTTGTAACTCAAGTGGCCTGCTTCCTGGCCAAGCAGCAGA ACAAATACAGTAAGATCTATATGCTCACCATCATGAAAGTGATGAACGAA GTCCTGTCTTCTCTCTGAGAAACTAAGTGCTCTCTCCATCAAAAATAATG TCATCCTCCCCATACTTCTAGGAAAACAGAAATGGGTATTTTAACATTTT GTTAAAGTTGGAAGACAGAGGTACCAAAGTATTTAGCAACTTTCCATGTT TGCAATCAGGTGGGGGTGGGACTAGAATTAAACTGCCATTTATTGATTTC TGACACCGGCACAGAATGACCTGTTTTCTCCAAGAGGCTCAATCGTGTTT TCAAGAATCCTCTCTGTACCATATAAGATCCTGCAGACAAATAACATCTA GTCTGTTGTTCTAAATGTCTGAGACTAGTGAACTTTTATTCAGTTCAAGT TTCTGTTGAGGCCCAATACGCAAAGCTCTGTTCTAGTGACTCTGAGGGAA ACTTGGTGATAGTAGCCAGTACCCGCTCTGAGGGGCTTCAAGAGGAGTCT GCTCCTAATAGAACCTGTGCTATCTATAAGTGACAGCATCAAGAGCAGGG AGTAGGGGCCGTGCATGGTGGCTCACTCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGAGTAGAGCACGAGGTCAGGAGTTTGAGACCAGCCTGGGCA ACATGGAGAAACCCCATCTCCACTAAAAATACAAAAAGTAGATGGGCATG GTGGCAGGTGACTGTAATCACCCCTGCTCAGGAGGCTGAGGCAGTAGAAT CCTTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCCAAGATTTTGCCGTTG CACTCCAGCCTGGGTGACAGGGCAAGACTGTTAAAAAAAAATAATAATGA GAAATAAAAATAAGAATAAAAAGCAGAGAGTAGCTTGGTGAGAGTGAAGT CCTGCTTCCTGGGGCACAGAGTCTTGTTCCTAAAGAGGAAGAAAGATCGC ACCCGAGAATGTGTGGAGGTAGCAGTGCAGTGTACAGAGCAGGGACCATG GGCCTGTCTCCTGGGCTCCATCCAAGTTGCTTGTCTTGTCTGTCCCTCAG TTTCCTCACCTGTTCAGAGGGTACTACAATAATACCTACCTCTGTAAATT GCTGCAATGAATTACATCAGCTATTTCTTGTCAATCTCCTAGAACATTTA TTGGCACAGAGTAAACACTATCTATTAGTTCTTCATTCTGCTGTTTCTAA ATTAACAGAAACTTCATTAGCATTTGGGCATAGGATTTCCTTCATGGCCT TATGGTGTTATGTGTCACACTTTATGCTTCAGATATGATTCTTAAAATCA TAACTGAAGATATGATTAAAAAATCAAAGATTTTTAAAATCTTTCACATA CTTGTCCTTGAAATTCCCAGTAAAAGGGAAACCATCAGTCCCATAGTTCT AGGAGCCTTCCTGACTGTACAAGAAATCACTACTTCATGCCCCAGTGCAG TGTTTTAGAGGAGAGGCTGCAAGTCTTGGGAAAGTGGCCCCGAATTCAGA GTCAGACCTCAGGGACTGTGAATTCTGACTCCACTTCGTTGTGGTTGAAT CATCTTGTCAACTTCCTTGATGTGCCCTTGAGGTTCTCTTTCTTCATCTC TAAATTTTGGAGGATCAGATGCCAGAAAGTCAGGAGACTGAAGAGTAAAG ACGTGGAAATCCCTGTCTAGACCCTGGTACTGTGGAGAGTTTTGTCCTTG GGATGGACCTGGCTCCTGCCCTGTAGGCAATGACCACAGCAGCATGTCCA GCCTTCCACTGATGCAGGCGTGTCTGTCTTTTCTCAGAATATGAAGAGTG CAAAGACCTCCTAAAATCTATGCTGAGGAATGAGCTACAGTTCAAGGAGG AGAAGCTTGCAGAGCAGCTGAAGCAAGCTGAGGAGCTCAGGTGAGGGGAC CCCATGGGGGCAGACAGGGGGGCAGGTGTGTAAATCTCTGAAGTACAGTA GCTCAGTGGGGAGACGTAAGAGCTAAGCTGGGCCAGGGGAAGGGCAGGAA TTGCCATGGCAGGTTTGCTACACACAAATATTTATCAAACAGAGAAGAAG GATAATAAAAATTTATGGGTTGCAGTTGTTTCTCAGAGCCTTGTTTTCTC TTTTTCAAACAAGTAATTGTTGATGTGAAATTTACATAACACAAAATTAA CCAAAGGAGTGTGAACCACACAGCAGCATTCAGTATACTCAAAATGGTGT GCCATCACCATCCCACTTACCCTTAGTGAGAATCACCTCCTGACTGACTG CGGCTTCTCATTCTTTCACTCAATCAATGTTGCCTTCTCGACCCTGTCAT TCTTTTCTTCTTTCGTCTTTTCAATTCGCCCTATCTGCATCTGGCCTCAT TTCTGTACATGGCTTTGTATCTAATGGCCGCAAGATGCACTATGTGTATT TTCACATGGAAATGTCCATGGCCAGAGTGAGGAACTGAAAGGATGTCTTT TTGAAACGGAATTAGGAAGACACCTACTTTTGTTTACAGAGGGGAAAGAT GAATGGAACATCATCGAGGATCTTGCAGGAGCCCTCTCTGATACAGAGGA AGCCTGTAAACCATTTTCTATTCTTTCTCTTGGCCACAGACATTCCTTTC AACATGTGCTGACCTTCTGCTTGGAGGTCTCCTTGAGGACATTGTCTCAG AAATCTCTGTTGCAATATTTGAACGGATCACTCAACCCTTTCCACTCTTA AATTTTCTCTACCGTCTCACCTTAGGCAATATAAAGTCCTGGTTCACTCT CAGGAACGAGAGCTGACCCAGTTAAGGGAGAAGTTACGGGAAGGGAGAGA TGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCCGGATG AGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGG TGTAGACTGGCACAACACCTTGTCCAAAAGCTCAGCCCAGGTAAGGTGGC CATAGGCCCTGATGACCCAAAACCCCAGGCTTATGAGAGGCTCCAGACCT CCATACTTTCACAATGACAGTTGTATCAATGGTGTTTTTTTCCACTAAGC TTATGTGGCCATGACATGACCAGGACTTCCTGGGTAAGAACGGAGATGGG AAACCCATGGGGTTGGAGGTCACAGTATTGCAAGTGTCCCTCCTTCCTTG ATGGAAGGTGGTCTTTGGAGTAAGAGGCAGCATCTGTCTAGTTTTAAAGG ACAGGAAGGAGGCTGCGATGGGAGCAGGCTTGTTAGAGTGAAAAGAGCTC TGGACTAAGAATGAAGGTTCCCAGGCTGTCTTTTCGGCAATGTTCTTAGT AACTGTCGGTGAGTGAATGACTTGTCCTTCCTGAGTTTCTCTCTCTCCAT GGCAGACAAATTGTCTCTTGCAAGGGTCTGAAGCTTTCAAATGTGGGAAC ACTTACAACTGCTTTCCAAAATGAGATGAAGCCCCTCTCC	G G	exon_loss_variant exon_loss_variant	HIGH	HG02965.hp1 HG03098.hp1 HG03130.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2	a0012 a0030 a0012 a0030	a0012c0011 a0030c0045 a0012c0011 a0030c0045	a0012c0011t0012 a0012c0011t0015 a0030c0045t0012 a0012c0011t0012 a0012c0011t0015 a0030c0045t0012	a0012c0011t0012g0083 a0012c0011t0015g0082 a0030c0045t0012g0084 a0012c0011t0012g0083 a0012c0011t0015g0082 a0030c0045t0012g0084	3	122	0.0246	-6289	c.130 others(17): Show c.1306+519_2119+512del		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	15/37				INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543210	GTGTGTCT others(4706): Show GTGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCT GTCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCTT TTACTTTCTTAACCACTTCCTTATGCTACCCATGAAACCTAGTTGGGGCT CTGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTC CAGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGG ACTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCT GACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACA TGTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGA TAAGCATCCACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTG GCCATTACTGAGCTGAGAGATGTCATTGCCGCAGTGAGGACCTATAGGCA CATGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACATGGGA TGGGTCAGTGAGCATGGCTCTCTTCCTAGTCTCAGGCCATACCTGTGGCA CTCTGATTCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCA GAGAACTATGATTTTGACTCAAGGGTTTGCAGATTTCCTTTTTCACTCTA ATTTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGATG AGACAGGGCTAAATATTGCAGTTTTTCTCCCAGAAATCATTTGAGGGTAT TTGCTTTAAATTGATTGGAAAAATATGGCATAACTGTTTGCACAAACTTG GGACAAATGATATTGGGATAACGATCTACTAGAATAGGGACATTTTACCC ACAGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAG GCCTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCC TGAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGA ATCAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAA GAAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAA GAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGG TGACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCA ACAGATTCAGGGAAACCAGACTGTGTTTGATGTCATGTTTTCAACGAAGG CTGAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTT TAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACGTACCATAGGTT GACCATACTTCAAAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAG CATATTTTATGGAAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTG CTGTGTGTCATGAGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCA GTATGTCACCTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTC TGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTTTCTCTTTC ATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCAATAATTTG TTACCTCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAACG TTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCT TATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGGAT GAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAAC TCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTG CCTTTTACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGGAT GGTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGGTT AGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTCAT TGCCACAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTT CCACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTCCC TAGTCTCAGGCCATGCCTGTGGAGCCCTAATCCTACTCTCATGACACTGG ACCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGTCTCAATTTT GTAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTAAAATCC TCGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCTGAATAGTGC AGTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCGATTGGA AAAATATGGCATAACCATTTGCACAAACTTGGGACAAATGATATTGGGAT AACGATCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGGACAAAAAC CAAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCTCT CACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTCCCTGTGTGAGGAC TAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTGTC CATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGAAG ACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTTAA TTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGTGT TCAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGCTG TTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTA ACATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGGCA ACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTCTT TTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTGTC CTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCACTT TCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTCT TTCATTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAAT TCATTACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTA TGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGG CTTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGG CTGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGGATAGATGTTATTCG ACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCAG TGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGG ACAGTGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGTCTTCCAG ATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGATGT CATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAATGAAACTGT AGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCTA TTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTCTCAGCACA TTGGACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGGACTCAA GGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTTA CATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCTGAATACTGCAGT TTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAACTGATGGGAACAA TAAGGCATAACTGTTTGCACAAACTTGGGATAAGTGATTTTGGGATAACG ATCTTCCAGAATGGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAAA GAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCTCTCACATTGT CCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAGT GGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGTCTG AATGTATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGC CCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTTG ACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATCG ATTACATCTTTTCAAGCAAGCCTGAATTATTCCTACTAACATTGCTGTTG GTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCA TTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATG GCGACTGCATGGAAACTTGAACACATTTTATGGAAAATTATTGAGCACAG TCTTTTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAG TGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTC GTTCTCTCTCTCTC	G G	exon_loss_variant exon_loss_variant	HIGH	HG03098.hp2 HG03098.hp2	a0116 a0116	a0116c0150 a0116c0150	a0116c0150t0001 a0116c0150t0001	a0116c0150t0001g0014 a0116c0150t0001g0014	1	276	0.0036	-4713	c.954 others(18): Show c.9543-197_10275-222del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	80/94				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAPH2_chr22_50503224_50529780	50522253	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(83): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18954.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18986.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0017 others(1): Show a0001c0001 a0001c0006 a0001c0017 a0003c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0006t0002 a0001c0017t0012 a0003c0018t0002	a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0022 others(59): Show a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0007g0014 a0001c0001t0014g0171 a0001c0006t0002g0073 a0001c0006t0002g0231 a0001c0017t0012g0066 a0003c0018t0002g0065	86	384	0.2240	0	c.123 others(6): Show c.1233+2C>T		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	14/19					chr22	TogoVar
NEK3_chr13_52127647_52164597	52143914	CT CT	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0012 a0010c0010 a0001c0001 a0006c0012 a0010c0010	a0001c0001t0001 a0001c0001t0006 a0006c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0006c0012t0001 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0006g0051 a0001c0001t0006g0180 a0006c0012t0001g0174 a0010c0010t0001g0148	214	398	0.5377	-1	c.877 others(4): Show c.877delA	p.Thr others(5): Show p.Thr293fs	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding	10/16	989/2128	877/1521	293/506		chr13	TogoVar
NLRP8_chr19_55942832_55993629	55987913	G G	C C	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0001 a0000c0002 a0000c0003 others(39): Show a0000c0001 a0000c0002 a0000c0003 a0000c0004 a0000c0007 a0000c0008 a0000c0010 a0000c0011 a0000c0013 a0000c0014 a0000c0015 a0000c0016 a0000c0017 a0000c0020 a0000c0021 a0000c0023 a0000c0025 a0000c0028 a0000c0032 a0000c0033 a0000c0035 a0000c0037 a0000c0038 a0000c0040 a0000c0042 a0000c0044 a0000c0046 a0000c0049 a0000c0050 a0000c0052 a0000c0053 a0000c0054 a0000c0056 a0000c0058 a0000c0059 a0000c0060 a0000c0061 a0000c0063 a0000c0065 a0000c0068 a0000c0069 a0000c0071	a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 others(114): Show a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 a0000c0001t0007 a0000c0001t0012 a0000c0001t0015 a0000c0001t0016 a0000c0001t0017 a0000c0001t0019 a0000c0001t0020 a0000c0001t0021 a0000c0001t0022 a0000c0001t0024 a0000c0001t0031 a0000c0001t0038 a0000c0001t0039 a0000c0001t0045 a0000c0001t0056 a0000c0002t0001 a0000c0002t0004 a0000c0002t0006 a0000c0002t0011 a0000c0002t0019 a0000c0002t0028 a0000c0002t0043 a0000c0002t0063 a0000c0002t0064 a0000c0002t0065 a0000c0002t0070 a0000c0003t0002 a0000c0003t0007 a0000c0003t0020 a0000c0003t0035 a0000c0003t0040 a0000c0003t0049 a0000c0003t0067 a0000c0004t0001 a0000c0004t0002 a0000c0004t0005 a0000c0004t0007 a0000c0004t0012 a0000c0004t0015 a0000c0004t0016 a0000c0004t0017 a0000c0004t0020 a0000c0004t0021 a0000c0004t0024 a0000c0004t0031 a0000c0004t0044 a0000c0004t0055 a0000c0004t0057 a0000c0004t0058 a0000c0004t0059 a0000c0007t0001 a0000c0007t0005 a0000c0007t0007 a0000c0007t0012 a0000c0008t0011 a0000c0008t0022 a0000c0008t0051 a0000c0008t0071 a0000c0010t0002 a0000c0010t0072 a0000c0011t0001 a0000c0011t0006 a0000c0013t0034 a0000c0013t0042 a0000c0013t0068 a0000c0013t0069 a0000c0014t0001 a0000c0014t0004 a0000c0015t0001 a0000c0015t0006 a0000c0015t0019 a0000c0016t0029 a0000c0016t0041 a0000c0016t0060 a0000c0016t0061 a0000c0017t0007 a0000c0017t0021 a0000c0017t0022 a0000c0017t0039 a0000c0020t0005 a0000c0020t0015 a0000c0020t0017 a0000c0020t0052 a0000c0021t0036 a0000c0021t0054 a0000c0023t0011 a0000c0025t0001 a0000c0028t0002 a0000c0032t0019 a0000c0032t0053 a0000c0033t0062 a0000c0033t0066 a0000c0035t0006 a0000c0037t0004 a0000c0038t0006 a0000c0040t0002 a0000c0042t0001 a0000c0044t0037 a0000c0046t0030 a0000c0049t0002 a0000c0050t0002 a0000c0052t0011 a0000c0053t0050 a0000c0054t0029 a0000c0056t0006 a0000c0058t0006 a0000c0059t0004 a0000c0060t0030 a0000c0061t0030 a0000c0063t0029 a0000c0065t0038 a0000c0068t0006 a0000c0069t0001 a0000c0071t0037	a0000c0001t0001g0008 a0000c0001t0001g0037 a0000c0001t0001g0038 others(241): Show a0000c0001t0001g0008 a0000c0001t0001g0037 a0000c0001t0001g0038 a0000c0001t0001g0062 a0000c0001t0001g0067 a0000c0001t0004g0066 a0000c0001t0004g0132 a0000c0001t0005g0004 a0000c0001t0005g0007 a0000c0001t0005g0057 a0000c0001t0005g0069 a0000c0001t0005g0079 a0000c0001t0005g0089 a0000c0001t0005g0124 a0000c0001t0007g0004 a0000c0001t0007g0043 a0000c0001t0007g0053 a0000c0001t0007g0060 a0000c0001t0007g0087 a0000c0001t0007g0093 a0000c0001t0007g0263 a0000c0001t0007g0264 a0000c0001t0007g0291 a0000c0001t0007g0295 a0000c0001t0012g0029 a0000c0001t0012g0071 a0000c0001t0012g0083 a0000c0001t0012g0085 a0000c0001t0012g0090 a0000c0001t0015g0041 a0000c0001t0015g0042 a0000c0001t0015g0058 a0000c0001t0015g0065 a0000c0001t0015g0082 a0000c0001t0015g0088 a0000c0001t0015g0292 a0000c0001t0016g0144 a0000c0001t0017g0105 a0000c0001t0017g0125 a0000c0001t0019g0091 a0000c0001t0020g0063 a0000c0001t0021g0054 a0000c0001t0021g0075 a0000c0001t0021g0096 a0000c0001t0022g0055 a0000c0001t0022g0068 a0000c0001t0024g0080 a0000c0001t0024g0081 a0000c0001t0024g0084 a0000c0001t0031g0136 a0000c0001t0038g0056 a0000c0001t0039g0064 a0000c0001t0045g0052 a0000c0001t0056g0007 a0000c0002t0001g0002 a0000c0002t0001g0006 a0000c0002t0001g0013 a0000c0002t0001g0086 a0000c0002t0001g0151 a0000c0002t0001g0240 a0000c0002t0001g0257 a0000c0002t0001g0272 a0000c0002t0001g0274 a0000c0002t0001g0275 a0000c0002t0001g0286 a0000c0002t0001g0289 a0000c0002t0001g0294 a0000c0002t0001g0306 a0000c0002t0001g0310 a0000c0002t0001g0327 a0000c0002t0001g0329 a0000c0002t0004g0002 a0000c0002t0004g0243 a0000c0002t0004g0277 a0000c0002t0004g0278 a0000c0002t0004g0279 a0000c0002t0004g0280 a0000c0002t0004g0290 a0000c0002t0004g0304 a0000c0002t0004g0305 a0000c0002t0004g0307 a0000c0002t0004g0311 a0000c0002t0006g0260 a0000c0002t0011g0033 a0000c0002t0019g0006 a0000c0002t0019g0013 a0000c0002t0019g0273 a0000c0002t0028g0241 a0000c0002t0028g0276 a0000c0002t0028g0281 a0000c0002t0043g0259 a0000c0002t0063g0287 a0000c0002t0064g0282 a0000c0002t0065g0256 a0000c0002t0070g0092 a0000c0003t0002g0001 a0000c0003t0002g0101 a0000c0003t0002g0104 a0000c0003t0002g0107 a0000c0003t0002g0110 a0000c0003t0002g0111 a0000c0003t0002g0122 a0000c0003t0002g0123 a0000c0003t0002g0128 a0000c0003t0002g0129 a0000c0003t0002g0130 a0000c0003t0002g0131 a0000c0003t0002g0138 a0000c0003t0002g0141 a0000c0003t0002g0142 a0000c0003t0002g0143 a0000c0003t0002g0146 a0000c0003t0007g0040 a0000c0003t0020g0001 a0000c0003t0020g0106 a0000c0003t0020g0108 a0000c0003t0035g0059 a0000c0003t0035g0119 a0000c0003t0040g0078 a0000c0003t0040g0147 a0000c0003t0049g0103 a0000c0003t0067g0126 a0000c0004t0001g0230 a0000c0004t0002g0219 a0000c0004t0005g0206 a0000c0004t0007g0208 a0000c0004t0012g0210 a0000c0004t0012g0212 a0000c0004t0012g0213 a0000c0004t0015g0012 a0000c0004t0016g0214 a0000c0004t0016g0215 a0000c0004t0016g0216 a0000c0004t0016g0220 a0000c0004t0016g0221 a0000c0004t0016g0223 a0000c0004t0017g0218 a0000c0004t0017g0224 a0000c0004t0017g0229 a0000c0004t0020g0231 a0000c0004t0021g0222 a0000c0004t0024g0186 a0000c0004t0031g0228 a0000c0004t0044g0217 a0000c0004t0055g0236 a0000c0004t0057g0211 a0000c0004t0058g0012 a0000c0004t0059g0209 a0000c0007t0001g0271 a0000c0007t0005g0258 a0000c0007t0005g0266 a0000c0007t0005g0268 a0000c0007t0005g0270 a0000c0007t0005g0293 a0000c0007t0007g0030 a0000c0007t0012g0267 a0000c0007t0012g0269 a0000c0007t0012g0303 a0000c0008t0011g0044 a0000c0008t0011g0047 a0000c0008t0011g0048 a0000c0008t0011g0072 a0000c0008t0011g0073 a0000c0008t0011g0074 a0000c0008t0022g0100 a0000c0008t0051g0045 a0000c0008t0071g0150 a0000c0010t0002g0314 a0000c0010t0002g0315 a0000c0010t0002g0318 a0000c0010t0002g0320 a0000c0010t0002g0322 a0000c0010t0002g0323 a0000c0010t0002g0324 a0000c0010t0072g0325 a0000c0011t0001g0021 a0000c0011t0006g0003 a0000c0011t0006g0017 a0000c0011t0006g0020 a0000c0011t0006g0022 a0000c0013t0034g0025 a0000c0013t0034g0026 a0000c0013t0042g0238 a0000c0013t0042g0239 a0000c0013t0068g0027 a0000c0013t0069g0028 a0000c0014t0001g0005 a0000c0014t0001g0205 a0000c0014t0004g0204 a0000c0015t0001g0010 a0000c0015t0006g0011 a0000c0015t0006g0179 a0000c0015t0019g0197 a0000c0016t0029g0184 a0000c0016t0041g0180 a0000c0016t0041g0183 a0000c0016t0060g0181 a0000c0016t0061g0182 a0000c0017t0007g0016 a0000c0017t0021g0177 a0000c0017t0022g0178 a0000c0017t0022g0185 a0000c0017t0039g0176 a0000c0020t0005g0201 a0000c0020t0015g0203 a0000c0020t0017g0191 a0000c0020t0052g0225 a0000c0021t0036g0159 a0000c0021t0036g0160 a0000c0021t0054g0157 a0000c0023t0011g0261 a0000c0023t0011g0262 a0000c0023t0011g0288 a0000c0025t0001g0133 a0000c0025t0001g0134 a0000c0025t0001g0145 a0000c0028t0002g0192 a0000c0028t0002g0193 a0000c0032t0019g0265 a0000c0032t0053g0308 a0000c0033t0062g0233 a0000c0033t0066g0232 a0000c0035t0006g0226 a0000c0037t0004g0152 a0000c0038t0006g0011 a0000c0040t0002g0207 a0000c0042t0001g0189 a0000c0044t0037g0158 a0000c0046t0030g0227 a0000c0049t0002g0285 a0000c0050t0002g0061 a0000c0052t0011g0046 a0000c0053t0050g0001 a0000c0054t0029g0032 a0000c0056t0006g0001 a0000c0058t0006g0095 a0000c0059t0004g0302 a0000c0060t0030g0309 a0000c0061t0030g0328 a0000c0063t0029g0321 a0000c0065t0038g0316 a0000c0068t0006g0023 a0000c0069t0001g0018 a0000c0071t0037g0015	254	350	0.7257	0	c.314 others(4): Show c.3147G>C	p.Ter others(12): Show p.Ter1049Tyrext*?	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	10/10	3218/3934	3147/3147	1049/1048		chr19	TogoVar
NME2_chr17_51161411_51176744	51166498	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG01109.hp2 HG01257.hp2 others(6): Show HG01099.hp1 HG01109.hp2 HG01257.hp2 HG01346.hp2 HG01884.hp2 HG02004.hp2 HG02683.hp2 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0008 a0001c0001t0001g0031	9	413	0.0218	0	c.-5+ others(4): Show c.-5+1G>A		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding	1/4					chr17	TogoVar
NMS_chr2_100465482_100488280	100470490	T T	C C	start_lost start_lost	HIGH	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	396	0.0025	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	NMS	ENSG00000204640.1	transcript	ENST00000376865.1	protein_coding	1/10	9/485	2/462	1/153		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132148890	A A	ACCTTGGT others(37): Show ACCTTGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	44	c.899 others(51): Show c.899_900insTGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCT	p.Gly others(5): Show p.Gly302fs	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/15	932/1650	900/1551	300/516	INFO_REALIGN_3_PRIME	chr12	TogoVar
NOSIP_chr19_49550468_49585556	49555817	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00733.hp2 HG00741.hp1 HG00741.hp2 others(9): Show HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01496.hp1 HG01891.hp2 HG02109.hp2 HG02559.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp1 NA18981.hp2 NA19030.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0002 a0000c0003t0001 a0000c0003t0002	a0000c0003t0001g0105 a0000c0003t0001g0106 a0000c0003t0001g0113 others(9): Show a0000c0003t0001g0105 a0000c0003t0001g0106 a0000c0003t0001g0113 a0000c0003t0001g0114 a0000c0003t0001g0118 a0000c0003t0001g0125 a0000c0003t0001g0279 a0000c0003t0002g0161 a0000c0003t0002g0167 a0000c0003t0002g0179 a0000c0003t0002g0182 a0000c0003t0002g0209	12	304	0.0395	1	c.839 others(4): Show c.839dupG	p.Thr others(5): Show p.Thr281fs	NOSIP	ENSG00000142546.14	transcript	ENST00000596358.6	protein_coding	9/9	882/1232	839/906	280/301		chr19	TogoVar
NPIPB13_chr16_30217897_30253479	30224067	C C	CCCCCGCA others(6): Show CCCCCGCAGACGCT	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01169.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18974.hp2 NA18992.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(28): Show a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0031 a0032 a0035 a0037 a0041 a0046 a0048 a0051 a0052 a0056 a0057 a0060 a0061	a0002c0003 a0002c0007 a0002c0008 others(39): Show a0002c0003 a0002c0007 a0002c0008 a0002c0012 a0002c0041 a0002c0042 a0003c0002 a0003c0038 a0003c0068 a0004c0005 a0004c0013 a0004c0046 a0005c0006 a0006c0010 a0006c0011 a0009c0034 a0009c0036 a0010c0015 a0012c0016 a0014c0030 a0017c0029 a0018c0028 a0019c0033 a0020c0035 a0021c0025 a0022c0024 a0023c0026 a0025c0067 a0026c0040 a0031c0043 a0032c0044 a0035c0062 a0037c0039 a0041c0052 a0046c0020 a0048c0056 a0051c0051 a0052c0049 a0056c0023 a0057c0070 a0060c0075 a0061c0076	a0002c0003t0001 a0002c0007t0007 a0002c0007t0015 others(50): Show a0002c0003t0001 a0002c0007t0007 a0002c0007t0015 a0002c0007t0020 a0002c0008t0003 a0002c0008t0012 a0002c0008t0014 a0002c0012t0001 a0002c0041t0001 a0002c0042t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0009 a0003c0038t0004 a0003c0068t0009 a0004c0005t0007 a0004c0005t0008 a0004c0005t0011 a0004c0005t0016 a0004c0013t0001 a0004c0046t0007 a0005c0006t0002 a0006c0010t0001 a0006c0011t0006 a0009c0034t0006 a0009c0036t0006 a0010c0015t0005 a0012c0016t0002 a0014c0030t0002 a0017c0029t0002 a0018c0028t0002 a0019c0033t0024 a0020c0035t0006 a0021c0025t0001 a0022c0024t0001 a0023c0026t0001 a0025c0067t0007 a0026c0040t0001 a0031c0043t0001 a0032c0044t0023 a0035c0062t0005 a0037c0039t0001 a0041c0052t0003 a0046c0020t0003 a0048c0056t0003 a0051c0051t0003 a0052c0049t0002 a0056c0023t0003 a0057c0070t0001 a0060c0075t0002 a0061c0076t0002	a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0068 others(81): Show a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0007t0007g0032 a0002c0007t0015g0023 a0002c0007t0020g0098 a0002c0008t0003g0114 a0002c0008t0012g0015 a0002c0008t0014g0017 a0002c0012t0001g0064 a0002c0012t0001g0079 a0002c0041t0001g0071 a0002c0042t0001g0072 a0003c0002t0001g0049 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0120 a0003c0002t0003g0087 a0003c0002t0003g0088 a0003c0002t0003g0094 a0003c0002t0003g0095 a0003c0002t0003g0097 a0003c0002t0004g0002 a0003c0002t0004g0005 a0003c0002t0004g0006 a0003c0002t0004g0007 a0003c0002t0004g0009 a0003c0002t0009g0013 a0003c0038t0004g0001 a0003c0068t0009g0012 a0004c0005t0007g0029 a0004c0005t0008g0030 a0004c0005t0008g0031 a0004c0005t0008g0033 a0004c0005t0008g0065 a0004c0005t0011g0014 a0004c0005t0016g0024 a0004c0013t0001g0053 a0004c0013t0001g0058 a0004c0046t0007g0028 a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0011t0006g0018 a0006c0011t0006g0019 a0009c0034t0006g0022 a0009c0036t0006g0020 a0010c0015t0005g0107 a0010c0015t0005g0110 a0012c0016t0002g0137 a0012c0016t0002g0139 a0014c0030t0002g0121 a0017c0029t0002g0138 a0018c0028t0002g0134 a0019c0033t0024g0145 a0020c0035t0006g0021 a0021c0025t0001g0067 a0022c0024t0001g0057 a0023c0026t0001g0054 a0025c0067t0007g0027 a0026c0040t0001g0078 a0031c0043t0001g0080 a0032c0044t0023g0144 a0035c0062t0005g0109 a0037c0039t0001g0085 a0041c0052t0003g0103 a0046c0020t0003g0104 a0048c0056t0003g0101 a0051c0051t0003g0096 a0052c0049t0002g0141 a0056c0023t0003g0102 a0057c0070t0001g0060 a0060c0075t0002g0129 a0061c0076t0002g0135	84	145	0.5793	13	c.237 others(22): Show c.2378_2379insAGCGTCTGCGGGG	p.Pro others(5): Show p.Pro794fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5121/6292	2378/3417	793/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224193	CCCCCGCA others(6): Show CCCCCGCAGACGCT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0025 a0026 a0027 a0031 a0032 a0033 a0037 a0038 a0039 a0041 a0043 a0045 a0046 a0048 a0050 a0051 a0052 a0055 a0056 a0057 a0059 a0060 a0061	a0001c0001 a0001c0004 a0001c0018 others(54): Show a0001c0001 a0001c0004 a0001c0018 a0002c0003 a0002c0007 a0002c0008 a0002c0012 a0002c0041 a0002c0042 a0003c0002 a0003c0038 a0003c0068 a0004c0005 a0004c0013 a0004c0046 a0005c0006 a0006c0010 a0006c0011 a0007c0017 a0007c0072 a0007c0074 a0009c0034 a0009c0036 a0010c0015 a0012c0016 a0014c0030 a0015c0031 a0016c0032 a0017c0029 a0018c0028 a0019c0033 a0020c0035 a0021c0025 a0023c0026 a0025c0067 a0026c0040 a0027c0047 a0031c0043 a0032c0044 a0033c0045 a0037c0039 a0038c0022 a0039c0060 a0041c0052 a0043c0019 a0045c0057 a0046c0020 a0048c0056 a0050c0058 a0051c0051 a0052c0049 a0055c0061 a0056c0023 a0057c0070 a0059c0073 a0060c0075 a0061c0076	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(72): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0013 a0001c0018t0001 a0002c0003t0001 a0002c0007t0007 a0002c0007t0015 a0002c0007t0020 a0002c0008t0003 a0002c0008t0012 a0002c0008t0014 a0002c0012t0001 a0002c0041t0001 a0002c0042t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0009 a0003c0038t0004 a0003c0068t0009 a0004c0005t0007 a0004c0005t0008 a0004c0005t0011 a0004c0005t0016 a0004c0013t0001 a0004c0046t0007 a0005c0006t0002 a0006c0010t0001 a0006c0011t0006 a0007c0017t0002 a0007c0072t0002 a0007c0074t0003 a0009c0034t0006 a0009c0036t0006 a0010c0015t0005 a0012c0016t0002 a0014c0030t0002 a0015c0031t0002 a0016c0032t0002 a0017c0029t0002 a0018c0028t0002 a0019c0033t0024 a0020c0035t0006 a0021c0025t0001 a0023c0026t0001 a0025c0067t0007 a0026c0040t0001 a0027c0047t0003 a0031c0043t0001 a0032c0044t0023 a0033c0045t0001 a0037c0039t0001 a0038c0022t0022 a0039c0060t0003 a0041c0052t0003 a0043c0019t0002 a0045c0057t0003 a0046c0020t0003 a0048c0056t0003 a0050c0058t0004 a0051c0051t0003 a0052c0049t0002 a0055c0061t0001 a0056c0023t0003 a0057c0070t0001 a0059c0073t0002 a0060c0075t0002 a0061c0076t0002	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(120): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0003g0091 a0001c0001t0017g0025 a0001c0001t0018g0042 a0001c0001t0019g0038 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0051 a0001c0004t0001g0069 a0001c0004t0003g0090 a0001c0004t0003g0092 a0001c0004t0003g0099 a0001c0004t0010g0011 a0001c0004t0013g0016 a0001c0018t0001g0045 a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0007t0007g0032 a0002c0007t0015g0023 a0002c0007t0020g0098 a0002c0008t0003g0114 a0002c0008t0012g0015 a0002c0008t0014g0017 a0002c0012t0001g0064 a0002c0012t0001g0079 a0002c0041t0001g0071 a0002c0042t0001g0072 a0003c0002t0001g0049 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0120 a0003c0002t0003g0087 a0003c0002t0003g0088 a0003c0002t0003g0094 a0003c0002t0003g0095 a0003c0002t0003g0097 a0003c0002t0004g0002 a0003c0002t0004g0005 a0003c0002t0004g0006 a0003c0002t0004g0007 a0003c0002t0004g0009 a0003c0002t0009g0013 a0003c0038t0004g0001 a0003c0068t0009g0012 a0004c0005t0007g0029 a0004c0005t0008g0030 a0004c0005t0008g0031 a0004c0005t0008g0033 a0004c0005t0008g0065 a0004c0005t0011g0014 a0004c0005t0016g0024 a0004c0013t0001g0053 a0004c0013t0001g0058 a0004c0046t0007g0028 a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0011t0006g0018 a0006c0011t0006g0019 a0007c0017t0002g0124 a0007c0017t0002g0133 a0007c0072t0002g0125 a0007c0074t0003g0105 a0009c0034t0006g0022 a0009c0036t0006g0020 a0010c0015t0005g0107 a0010c0015t0005g0110 a0012c0016t0002g0137 a0012c0016t0002g0139 a0014c0030t0002g0121 a0015c0031t0002g0130 a0016c0032t0002g0123 a0017c0029t0002g0138 a0018c0028t0002g0134 a0019c0033t0024g0145 a0020c0035t0006g0021 a0021c0025t0001g0067 a0023c0026t0001g0054 a0025c0067t0007g0027 a0026c0040t0001g0078 a0027c0047t0003g0112 a0031c0043t0001g0080 a0032c0044t0023g0144 a0033c0045t0001g0056 a0037c0039t0001g0085 a0038c0022t0022g0143 a0039c0060t0003g0113 a0041c0052t0003g0103 a0043c0019t0002g0116 a0045c0057t0003g0093 a0046c0020t0003g0104 a0048c0056t0003g0101 a0050c0058t0004g0003 a0051c0051t0003g0096 a0052c0049t0002g0141 a0055c0061t0001g0050 a0056c0023t0003g0102 a0057c0070t0001g0060 a0059c0073t0002g0132 a0060c0075t0002g0129 a0061c0076t0002g0135	123	145	0.8483	-13	c.224 others(22): Show c.2240_2252delAGCGTCTGCGGGG	p.Glu others(5): Show p.Glu747fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4995/6292	2240/3417	747/1138		chr16	TogoVar

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