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
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0011 a0013 others(1): Show a0002 a0011 a0013 a0020	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0011c0016 a0013c0029 a0020c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0011c0016t0001 a0013c0029t0001 a0020c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 others(67): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0136 a0002c0002t0001g0153 a0002c0002t0003g0038 a0002c0008t0001g0040 a0002c0008t0001g0109 a0002c0011t0001g0001 a0002c0011t0001g0013 a0002c0024t0001g0101 a0002c0025t0001g0036 a0002c0026t0001g0124 a0002c0027t0001g0001 a0011c0016t0001g0001 a0013c0029t0001g0035 a0020c0028t0001g0001	150	400	0.3750	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901		chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017 a0018c0026 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009 a0018c0026t0014 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0022g0184 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133 a0018c0026t0014g0085 a0020c0028t0002g0180 a0021c0027t0002g0174	373	390	0.9564	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9					chr11	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0006g0005 a0001c0001t0006g0033 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	209	394	0.5305	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0015 a0017 a0018 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0015c0025 a0017c0023 a0018c0022 a0020c0030 a0021c0031 a0022c0032 a0023c0033 a0024c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0015c0025t0007 a0017c0023t0019 a0018c0022t0001 a0020c0030t0007 a0021c0031t0001 a0022c0032t0012 a0023c0033t0006 a0024c0020t0014	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0006g0084 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0017g0058 a0001c0001t0018g0123 a0001c0001t0021g0146 a0001c0019t0001g0074 a0001c0019t0001g0075 a0001c0035t0001g0070 a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0006c0015t0001g0020 a0006c0015t0001g0208 a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 a0007c0007t0006g0257 a0007c0007t0012g0256 a0007c0007t0013g0038 a0007c0007t0013g0039 a0007c0007t0014g0155 a0010c0011t0001g0158 a0010c0011t0001g0164 a0010c0011t0001g0194 a0010c0011t0001g0265 a0010c0011t0001g0293 a0013c0016t0001g0029 a0013c0016t0001g0033 a0015c0025t0007g0252 a0017c0023t0019g0190 a0018c0022t0001g0083 a0020c0030t0007g0163 a0021c0031t0001g0159 a0022c0032t0012g0195 a0023c0033t0006g0249 a0024c0020t0014g0254	142	372	0.3817	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0014 a0017 a0025 a0027 a0028 a0032	a0003c0003 a0006c0008 a0006c0034 others(7): Show a0003c0003 a0006c0008 a0006c0034 a0007c0007 a0014c0014 a0017c0017 a0025c0057 a0027c0028 a0028c0056 a0032c0054	a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 others(8): Show a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 a0006c0034t0001 a0007c0007t0001 a0014c0014t0001 a0017c0017t0001 a0025c0057t0001 a0027c0028t0001 a0028c0056t0001 a0032c0054t0001	a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 others(44): Show a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0172 a0003c0003t0001g0181 a0006c0008t0001g0004 a0006c0008t0001g0005 a0006c0008t0001g0006 a0006c0008t0001g0007 a0006c0008t0001g0147 a0006c0008t0001g0148 a0006c0008t0009g0146 a0006c0034t0001g0173 a0007c0007t0001g0137 a0007c0007t0001g0138 a0007c0007t0001g0139 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0164 a0007c0007t0001g0180 a0007c0007t0001g0207 a0014c0014t0001g0150 a0014c0014t0001g0154 a0014c0014t0001g0155 a0014c0014t0001g0156 a0017c0017t0001g0145 a0017c0017t0001g0169 a0017c0017t0001g0170 a0025c0057t0001g0134 a0027c0028t0001g0161 a0028c0056t0001g0171 a0032c0054t0001g0165	47	212	0.2217	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA8_chr10_47462993_47489115	47475492	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	412	0.0024	0	c.492 others(5): Show c.492+1G>A		ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	6/11					chr10	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 others(74): Show a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0164 a0002c0002t0002g0179 a0002c0002t0023g0078 a0002c0002t0029g0094 a0002c0002t0031g0087 a0002c0002t0032g0158 a0002c0003t0003g0005 a0002c0003t0003g0008 a0002c0003t0003g0037 a0002c0003t0003g0050 a0002c0003t0003g0096 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0154 a0002c0003t0003g0165 a0002c0003t0003g0185 a0002c0003t0011g0135 a0002c0003t0011g0136 a0002c0003t0011g0194 a0002c0003t0019g0067 a0002c0003t0020g0104 a0002c0003t0021g0121 a0002c0003t0022g0091 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0049 a0002c0005t0005g0065 a0002c0005t0005g0066 a0002c0005t0005g0153 a0002c0005t0005g0180 a0002c0005t0005g0183 a0002c0005t0005g0206 a0002c0005t0005g0207 a0002c0005t0016g0055 a0002c0005t0030g0118 a0002c0009t0003g0017 a0002c0009t0003g0201 a0002c0010t0003g0027 a0002c0010t0003g0186	129	434	0.2972	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348		chr22	TogoVar
ARAF_chrX_47556205_47576908	47562984	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0015 a0007c0004t0001g0015	1	318	0.0031	1	c.23d others(3): Show c.23dupC	p.Ala others(3): Show p.Ala9fs	ARAF	ENSG00000078061.14	transcript	ENST00000377045.9	protein_coding	2/16	130/2378	24/1821	8/606	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMTL_chrX_1398139_1457909	1403270	CA CA	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 NA18971.hp2 NA19081.hp2	a0000 a0000	a0000c0007 a0000c0030 a0000c0039 others(1): Show a0000c0007 a0000c0030 a0000c0039 a0000c0043	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(1): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0000c0043t0001	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(8): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0000c0043t0001g0069	11	185	0.0595	-1	c.186 others(5): Show c.1864delT	p.Ter others(5): Show p.Ter622fs	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	13/13	1933/2065	1864/1866	622/621		chrX	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0021 a0023	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0013 a0010c0014 a0013c0018 a0015c0019 a0021c0026 a0023c0033	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0009c0013t0012 a0010c0014t0001 a0013c0018t0001 a0015c0019t0001 a0021c0026t0001 a0023c0033t0012	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0009g0238 a0001c0001t0009g0257 a0001c0001t0009g0263 a0001c0001t0010g0205 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0196 a0001c0001t0013g0237 a0001c0001t0013g0276 a0001c0001t0014g0151 a0001c0001t0014g0275 a0001c0001t0014g0279 a0001c0001t0016g0009 a0001c0001t0017g0175 a0001c0001t0018g0001 a0001c0001t0018g0294 a0001c0001t0019g0246 a0001c0001t0019g0253 a0001c0001t0023g0002 a0001c0001t0025g0268 a0001c0001t0026g0190 a0001c0001t0027g0258 a0001c0001t0028g0290 a0001c0001t0034g0152 a0001c0008t0016g0115 a0001c0008t0016g0116 a0001c0010t0031g0031 a0001c0020t0001g0273 a0001c0024t0001g0240 a0001c0025t0001g0274 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0298 a0003c0003t0001g0299 a0004c0004t0004g0168 a0004c0004t0004g0169 a0004c0004t0004g0176 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0180 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0004g0184 a0004c0004t0005g0004 a0005c0006t0005g0165 a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0181 a0005c0006t0030g0167 a0006c0007t0001g0150 a0006c0007t0001g0156 a0006c0007t0001g0157 a0006c0007t0001g0160 a0006c0007t0001g0161 a0006c0007t0009g0162 a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0010c0014t0001g0215 a0010c0014t0001g0281 a0013c0018t0001g0231 a0015c0019t0001g0209 a0021c0026t0001g0230 a0023c0033t0012g0118	160	304	0.5263	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0007 a0008 a0009 a0010	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0027 a0002c0029 a0002c0031 a0004c0014 a0005c0020 a0007c0026 a0008c0032 a0009c0028 a0010c0030	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0018t0002 a0002c0019t0008 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0027t0001 a0002c0029t0004 a0002c0031t0001 a0004c0014t0002 a0005c0020t0001 a0007c0026t0001 a0008c0032t0001 a0009c0028t0001 a0010c0030t0001	a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 others(144): Show a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0345 a0002c0003t0001g0410 a0002c0003t0001g0412 a0002c0003t0001g0413 a0002c0003t0001g0414 a0002c0006t0001g0017 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0270 a0002c0006t0001g0272 a0002c0006t0001g0279 a0002c0006t0001g0283 a0002c0006t0001g0288 a0002c0006t0001g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0006t0001g0302 a0002c0006t0001g0306 a0002c0006t0001g0310 a0002c0006t0001g0313 a0002c0006t0001g0316 a0002c0006t0001g0329 a0002c0006t0001g0332 a0002c0006t0001g0336 a0002c0006t0001g0343 a0002c0006t0001g0355 a0002c0006t0001g0398 a0002c0006t0001g0411 a0002c0006t0003g0019 a0002c0006t0003g0333 a0002c0006t0003g0339 a0002c0008t0002g0278 a0002c0008t0002g0344 a0002c0008t0002g0365 a0002c0008t0002g0367 a0002c0008t0002g0368 a0002c0008t0002g0369 a0002c0008t0002g0370 a0002c0008t0002g0371 a0002c0008t0002g0373 a0002c0008t0002g0377 a0002c0008t0002g0378 a0002c0008t0002g0379 a0002c0008t0002g0380 a0002c0008t0002g0381 a0002c0008t0002g0382 a0002c0008t0002g0383 a0002c0008t0002g0384 a0002c0008t0002g0385 a0002c0008t0002g0399 a0002c0008t0002g0400 a0002c0008t0002g0401 a0002c0008t0002g0403 a0002c0008t0002g0404 a0002c0008t0002g0405 a0002c0010t0002g0293 a0002c0010t0002g0307 a0002c0010t0002g0322 a0002c0010t0002g0340 a0002c0010t0002g0346 a0002c0010t0002g0347 a0002c0010t0002g0348 a0002c0010t0002g0356 a0002c0010t0002g0357 a0002c0010t0002g0358 a0002c0010t0002g0359 a0002c0010t0002g0360 a0002c0010t0002g0361 a0002c0010t0002g0362 a0002c0010t0002g0363 a0002c0010t0002g0366 a0002c0010t0002g0406 a0002c0011t0002g0284 a0002c0011t0002g0350 a0002c0011t0002g0353 a0002c0011t0002g0392 a0002c0011t0002g0397 a0002c0011t0007g0274 a0002c0011t0007g0275 a0002c0011t0007g0276 a0002c0011t0007g0277 a0002c0012t0005g0273 a0002c0012t0005g0349 a0002c0012t0005g0351 a0002c0012t0005g0352 a0002c0012t0005g0354 a0002c0012t0005g0364 a0002c0012t0012g0323 a0002c0013t0002g0386 a0002c0013t0002g0388 a0002c0013t0002g0389 a0002c0013t0002g0390 a0002c0013t0002g0391 a0002c0018t0002g0341 a0002c0018t0002g0402 a0002c0019t0008g0300 a0002c0019t0008g0311 a0002c0021t0001g0289 a0002c0021t0001g0407 a0002c0024t0002g0387 a0002c0025t0001g0330 a0002c0027t0001g0327 a0002c0029t0004g0281 a0002c0031t0001g0409 a0004c0014t0002g0020 a0004c0014t0002g0375 a0004c0014t0002g0376 a0005c0020t0001g0018 a0007c0026t0001g0314 a0008c0032t0001g0374 a0009c0028t0001g0342 a0010c0030t0001g0372	152	440	0.3455	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
AVPI1_chr10_97672424_97692241	97679916	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0070 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0007g0331	101	446	0.2265	0	c.-10 others(5): Show c.-10-1G>C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2					chr10	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0002c0003t0001g0051 a0002c0003t0001g0052	80	440	0.1818	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL2_chr6_32388339_32412181	32394744	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show HG00438.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 others(10): Show a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0178 a0004c0003t0003g0179 a0004c0003t0003g0180 a0004c0003t0003g0181 a0004c0003t0003g0182 a0004c0003t0003g0183 a0004c0003t0003g0184 a0004c0003t0003g0185	45	453	0.0993	0	c.136 others(4): Show c.1360G>T	p.Glu others(4): Show p.Glu454*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	6/8	1418/1564	1360/1449	454/482		chr6	TogoVar
C1orf127_chr1_10941475_10987076	10949622	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show HG02056.hp1 HG02145.hp1 HG02155.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0010 a0011 a0014	a0003c0006 a0003c0014 a0005c0008 others(4): Show a0003c0006 a0003c0014 a0005c0008 a0008c0026 a0010c0020 a0011c0019 a0014c0018	a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 others(5): Show a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 a0005c0008t0004 a0008c0026t0004 a0010c0020t0005 a0011c0019t0004 a0014c0018t0004	a0003c0006t0004g0034 a0003c0006t0004g0086 a0003c0006t0004g0113 others(20): Show a0003c0006t0004g0034 a0003c0006t0004g0086 a0003c0006t0004g0113 a0003c0006t0004g0220 a0003c0006t0004g0257 a0003c0006t0004g0327 a0003c0006t0004g0343 a0003c0006t0004g0363 a0003c0006t0004g0367 a0003c0006t0004g0374 a0003c0006t0012g0341 a0003c0014t0004g0084 a0005c0008t0004g0012 a0005c0008t0004g0026 a0005c0008t0004g0032 a0005c0008t0004g0101 a0005c0008t0004g0332 a0005c0008t0004g0333 a0005c0008t0004g0350 a0008c0026t0004g0116 a0010c0020t0005g0030 a0011c0019t0004g0360 a0014c0018t0004g0336	23	392	0.0587	0	c.129 others(6): Show c.1290+2C>T		C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	11/12					chr1	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
CALHM6_chr6_116456375_116468771	116462456	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(16): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02683.hp2 HG04184.hp1 NA18949.hp1 NA18951.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19010.hp2 NA19068.hp2 NA19076.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028 a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028	19	440	0.0432	0	c.525 others(5): Show c.525+2T>G		CALHM6	ENSG00000188820.13	transcript	ENST00000368605.3	protein_coding	2/2					chr6	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0005g0142 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	261	362	0.7210	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5					chr14	TogoVar
CCHCR1_chr6_31137439_31162802	31157480	C C	A A	stop_gained stop_gained	HIGH	HG00423.hp1 HG00733.hp1 HG00741.hp1 others(20): Show HG00423.hp1 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp2 HG01346.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG03225.hp1 NA18747.hp1 NA18747.hp2 NA18965.hp1 NA18975.hp2 NA18983.hp2 NA20129.hp1 NA20300.hp1	a0007 a0007	a0007c0013 a0007c0016 a0007c0018 others(4): Show a0007c0013 a0007c0016 a0007c0018 a0007c0022 a0007c0023 a0007c0024 a0007c0034	a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 others(5): Show a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0018t0003 a0007c0022t0003 a0007c0023t0003 a0007c0024t0003 a0007c0034t0003	a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 others(10): Show a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0018t0003g0103 a0007c0018t0003g0106 a0007c0018t0003g0109 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0024t0003g0102 a0007c0024t0003g0108 a0007c0034t0003g0104	23	455	0.0506	0	c.121 others(3): Show c.121G>T	p.Glu others(3): Show p.Glu41*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	1/18	323/2971	121/2616	41/871		chr6	TogoVar
CD101_chr1_116996760_117041552	117034068	GAGGGAAG others(26): Show GAGGGAAGACGAGGAGGAAGATGAAGGCAACTGA	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG02683.hp2 HG02683.hp2	a0000 a0000	a0000c0041 a0000c0041	a0000c0041t0001 a0000c0041t0001	a0000c0041t0001g0252 a0000c0041t0001g0252	1	426	0.0024	-33	c.303 others(40): Show c.3035_*1delGGGAAGACGAGGAGGAAGATGAAGGCAACTGAA	p.Arg others(21): Show p.Arg1012_Ter1022delins???	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	9/10	3093/3542	3035/3066	1012/1021	INFO_REALIGN_3_PRIME	chr1	TogoVar
CD177_chr19_43348686_43368172	43361169	A A	T T	stop_gained stop_gained	HIGH	HG00544.hp2 HG01106.hp2 HG01256.hp2 others(9): Show HG00544.hp2 HG01106.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG02280.hp1 HG02683.hp1 HG02698.hp1 HG03139.hp1 HG03239.hp2 NA20752.hp2	a0009 a0018 a0021 others(3): Show a0009 a0018 a0021 a0023 a0026 a0031	a0009c0013 a0009c0029 a0009c0036 others(5): Show a0009c0013 a0009c0029 a0009c0036 a0018c0016 a0021c0019 a0023c0038 a0026c0033 a0031c0041	a0009c0013t0002 a0009c0029t0002 a0009c0036t0001 others(5): Show a0009c0013t0002 a0009c0029t0002 a0009c0036t0001 a0018c0016t0002 a0021c0019t0002 a0023c0038t0005 a0026c0033t0005 a0031c0041t0002	a0009c0013t0002g0249 a0009c0013t0002g0326 a0009c0013t0002g0327 others(9): Show a0009c0013t0002g0249 a0009c0013t0002g0326 a0009c0013t0002g0327 a0009c0029t0002g0199 a0009c0036t0001g0211 a0018c0016t0002g0076 a0018c0016t0002g0108 a0021c0019t0002g0078 a0021c0019t0002g0164 a0023c0038t0005g0280 a0026c0033t0005g0302 a0031c0041t0002g0255	12	466	0.0258	0	c.787 others(3): Show c.787A>T	p.Lys others(4): Show p.Lys263*	CD177	ENSG00000204936.10	transcript	ENST00000618265.5	protein_coding	7/9	816/2195	787/1314	263/437		chr19	TogoVar
CD200R1L_chr3_112810711_112851864	112827063	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18967.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 others(25): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0065 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0092 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0180 a0003c0006t0001g0076	49	408	0.1201	-1	c.545 others(4): Show c.545delA	p.His others(5): Show p.His182fs	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	6/8	1143/1603	545/753	182/250		chr3	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0137 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0206 a0003c0002t0001g0025 a0003c0002t0001g0041 a0003c0002t0001g0042 a0003c0002t0001g0122 a0003c0002t0001g0140 a0003c0002t0001g0141 a0004c0004t0001g0031 a0004c0004t0001g0168	118	416	0.2837	2	c.647 others(13): Show c.647-4_647-3dupTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr20	TogoVar
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0014 a0004c0004 a0005c0006 a0007c0009 a0008c0013 a0009c0017 a0011c0015	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0006t0002 a0007c0009t0001 a0008c0013t0001 a0009c0017t0001 a0011c0015t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0081 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0006t0002g0020 a0005c0006t0002g0062 a0007c0009t0001g0003 a0008c0013t0001g0054 a0009c0017t0001g0046 a0011c0015t0001g0080	163	393	0.4148	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CELA1_chr12_51323442_51351679	51329814	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show HG00099.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG01993.hp2 HG02165.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18973.hp2 NA18990.hp2 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0009 a0002c0004 a0002c0007 a0002c0009	a0002c0004t0002 a0002c0007t0002 a0002c0009t0002 a0002c0004t0002 a0002c0007t0002 a0002c0009t0002	a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 others(19): Show a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081	46	406	0.1133	1	c.628 others(4): Show c.628dupC	p.Leu others(5): Show p.Leu210fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	7/8	669/953	628/777	210/258		chr12	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(26): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0025 a0030 a0031 a0032 a0035 a0039 a0046 a0047 a0051 a0054 a0055 a0056 a0060 a0061 a0065 a0067	a0001c0019 a0001c0020 a0001c0054 others(112): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0075 a0001c0076 a0001c0190 a0001c0197 a0001c0204 a0002c0002 a0002c0007 a0002c0034 a0002c0161 a0004c0006 a0004c0030 a0004c0036 a0004c0148 a0004c0232 a0005c0015 a0005c0021 a0005c0022 a0005c0081 a0005c0082 a0005c0086 a0005c0087 a0005c0088 a0005c0089 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0096 a0005c0097 a0006c0028 a0006c0126 a0006c0128 a0006c0138 a0006c0139 a0006c0140 a0006c0143 a0006c0144 a0006c0217 a0006c0218 a0007c0112 a0007c0113 a0007c0115 a0007c0116 a0007c0120 a0007c0121 a0007c0122 a0007c0124 a0007c0209 a0007c0210 a0008c0011 a0008c0024 a0008c0098 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0103 a0008c0104 a0008c0105 a0008c0107 a0008c0108 a0008c0109 a0008c0182 a0010c0031 a0010c0155 a0010c0156 a0010c0183 a0010c0236 a0013c0013 a0013c0158 a0013c0159 a0014c0012 a0014c0027 a0014c0129 a0014c0219 a0018c0169 a0021c0134 a0021c0135 a0023c0172 a0023c0173 a0025c0037 a0030c0043 a0031c0048 a0032c0237 a0035c0111 a0039c0176 a0046c0167 a0047c0168 a0051c0078 a0054c0179 a0055c0181 a0056c0180 a0060c0184 a0061c0185 a0065c0047 a0067c0042	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(112): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0190t0001 a0001c0197t0001 a0001c0204t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0002c0161t0001 a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0148t0001 a0004c0232t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0089t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0005c0097t0001 a0006c0028t0001 a0006c0126t0001 a0006c0128t0001 a0006c0138t0001 a0006c0139t0002 a0006c0140t0001 a0006c0143t0001 a0006c0144t0001 a0006c0217t0001 a0006c0218t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0121t0001 a0007c0122t0001 a0007c0124t0001 a0007c0209t0001 a0007c0210t0001 a0008c0011t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0103t0001 a0008c0104t0001 a0008c0105t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001 a0010c0031t0001 a0010c0155t0001 a0010c0156t0001 a0010c0183t0001 a0010c0236t0001 a0013c0013t0001 a0013c0158t0001 a0013c0159t0001 a0014c0012t0001 a0014c0027t0001 a0014c0129t0001 a0014c0219t0001 a0018c0169t0001 a0021c0134t0001 a0021c0135t0001 a0023c0172t0001 a0023c0173t0001 a0025c0037t0001 a0030c0043t0001 a0031c0048t0001 a0032c0237t0001 a0035c0111t0001 a0039c0176t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0054c0179t0001 a0055c0181t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0065c0047t0001 a0067c0042t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(140): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0190t0001g0005 a0001c0197t0001g0002 a0001c0204t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0002c0161t0001g0007 a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0148t0001g0060 a0004c0232t0001g0033 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0005c0097t0001g0001 a0006c0028t0001g0001 a0006c0126t0001g0003 a0006c0128t0001g0004 a0006c0138t0001g0003 a0006c0139t0002g0067 a0006c0140t0001g0003 a0006c0143t0001g0014 a0006c0144t0001g0072 a0006c0217t0001g0002 a0006c0218t0001g0015 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0209t0001g0026 a0007c0210t0001g0002 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0103t0001g0006 a0008c0104t0001g0039 a0008c0105t0001g0001 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030 a0010c0031t0001g0001 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0183t0001g0030 a0010c0236t0001g0001 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0158t0001g0003 a0013c0159t0001g0008 a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0014c0129t0001g0004 a0014c0219t0001g0002 a0018c0169t0001g0001 a0021c0134t0001g0004 a0021c0135t0001g0004 a0023c0172t0001g0001 a0023c0173t0001g0009 a0025c0037t0001g0002 a0025c0037t0001g0011 a0030c0043t0001g0037 a0031c0048t0001g0064 a0032c0237t0001g0040 a0035c0111t0001g0042 a0039c0176t0001g0001 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0054c0179t0001g0086 a0055c0181t0001g0001 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0065c0047t0001g0036 a0067c0042t0001g0080	182	416	0.4375	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CGB5_chr19_49038848_49050311	49045269	C C	A A	stop_gained stop_gained	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	382	0.0026	0	c.473 others(3): Show c.473C>A	p.Ser others(4): Show p.Ser158*	CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding	3/3	835/877	473/498	158/165		chr19	TogoVar
CMYA5_chr5_79684836_79805222	79733075	C C	A A	stop_gained stop_gained	HIGH	HG02683.hp1 HG02683.hp1	a0073 a0073	a0073c0076 a0073c0076	a0073c0076t0001 a0073c0076t0001	a0073c0076t0001g0101 a0073c0076t0001g0101	1	358	0.0028	0	c.431 others(4): Show c.4310C>A	p.Ser others(5): Show p.Ser1437*	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/13	4382/12888	4310/12210	1437/4069		chr5	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0010 a0005c0019 a0006c0013 a0007c0011 a0008c0012 a0010c0014 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0007c0011t0002 a0008c0012t0007 a0010c0014t0001 a0011c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0263 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0226 a0001c0001t0013g0001 a0001c0001t0013g0048 a0001c0001t0013g0206 a0001c0001t0013g0210 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0017g0186 a0001c0001t0017g0279 a0001c0001t0018g0255 a0001c0001t0019g0050 a0001c0001t0019g0201 a0001c0001t0020g0049 a0001c0001t0025g0007 a0001c0001t0026g0001 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0036 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0044 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0035 a0001c0003t0023g0036 a0001c0003t0048g0152 a0001c0005t0002g0046 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0007g0120 a0002c0002t0007g0121 a0002c0002t0010g0002 a0002c0002t0022g0006 a0002c0002t0022g0128 a0002c0002t0041g0031 a0002c0002t0043g0032 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0102 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0087 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0007c0011t0002g0002 a0008c0012t0007g0044 a0010c0014t0001g0184 a0011c0018t0001g0004	355	424	0.8373	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0003g0203 a0001c0001t0004g0091 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0209 a0001c0001t0012g0183 a0001c0001t0013g0133 a0001c0001t0014g0169 a0001c0001t0015g0202 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0220 a0002c0002t0006g0348 a0002c0002t0007g0332 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0177	134	370	0.3622	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A5_chr3_130340672_130489846	130471876	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(18): Show a0001 a0004 a0006 a0008 a0009 a0022 a0027 a0035 a0047 a0048 a0058 a0064 a0065 a0069 a0074 a0080 a0081 a0084 a0087 a0090 a0091	a0001c0001 a0001c0014 a0001c0040 others(23): Show a0001c0001 a0001c0014 a0001c0040 a0001c0082 a0004c0003 a0006c0005 a0008c0010 a0008c0026 a0009c0009 a0022c0024 a0027c0089 a0027c0090 a0035c0028 a0047c0084 a0048c0099 a0058c0107 a0064c0061 a0065c0060 a0069c0056 a0074c0106 a0080c0069 a0081c0080 a0084c0049 a0087c0076 a0090c0052 a0091c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0040t0002 a0001c0082t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0009c0009t0002 a0022c0024t0002 a0027c0089t0002 a0027c0090t0002 a0035c0028t0001 a0047c0084t0002 a0048c0099t0002 a0058c0107t0003 a0064c0061t0002 a0065c0060t0005 a0069c0056t0001 a0074c0106t0003 a0080c0069t0001 a0081c0080t0011 a0084c0049t0001 a0087c0076t0001 a0090c0052t0003 a0091c0078t0002	a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 others(98): Show a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0003g0086 a0001c0014t0002g0185 a0001c0014t0002g0201 a0001c0014t0002g0238 a0001c0014t0002g0250 a0001c0014t0002g0255 a0001c0014t0002g0264 a0001c0040t0002g0240 a0001c0040t0002g0241 a0001c0082t0002g0253 a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0004c0003t0001g0207 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0002g0199 a0004c0003t0002g0236 a0004c0003t0003g0087 a0006c0005t0001g0021 a0006c0005t0002g0008 a0006c0005t0002g0228 a0006c0005t0002g0230 a0006c0005t0002g0252 a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 a0006c0005t0003g0081 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0009c0009t0002g0094 a0009c0009t0002g0095 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0022c0024t0002g0003 a0022c0024t0002g0102 a0027c0089t0002g0200 a0027c0090t0002g0280 a0035c0028t0001g0099 a0035c0028t0001g0104 a0047c0084t0002g0271 a0048c0099t0002g0229 a0058c0107t0003g0072 a0064c0061t0002g0267 a0065c0060t0005g0042 a0069c0056t0001g0114 a0074c0106t0003g0078 a0080c0069t0001g0134 a0081c0080t0011g0059 a0084c0049t0001g0126 a0087c0076t0001g0274 a0090c0052t0003g0011 a0091c0078t0002g0276	104	292	0.3562	-1	c.777 others(5): Show c.7772delT	p.Leu others(6): Show p.Leu2591fs	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/41	8110/8969	7772/7845	2591/2614	INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0010 a0008c0009 a0010c0014 a0011c0013 a0017c0020 a0018c0022 a0019c0019 a0020c0018 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0010t0002 a0008c0009t0001 a0008c0009t0002 a0010c0014t0001 a0011c0013t0002 a0017c0020t0001 a0018c0022t0001 a0019c0019t0001 a0020c0018t0002 a0021c0021t0002	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0049 others(237): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0001 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0382 a0001c0004t0001g0061 a0001c0004t0001g0090 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0201 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0236 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0002g0263 a0001c0004t0002g0280 a0001c0004t0002g0281 a0001c0004t0002g0314 a0001c0004t0002g0326 a0001c0004t0002g0327 a0001c0004t0002g0329 a0001c0004t0002g0332 a0001c0004t0002g0347 a0001c0004t0002g0349 a0001c0004t0002g0380 a0001c0004t0002g0381 a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0017t0001g0226 a0005c0007t0002g0288 a0005c0007t0002g0306 a0005c0007t0002g0320 a0005c0007t0002g0322 a0005c0007t0002g0324 a0005c0007t0002g0325 a0005c0007t0002g0335 a0007c0010t0002g0296 a0007c0010t0002g0297 a0007c0010t0002g0300 a0008c0009t0001g0011 a0008c0009t0001g0012 a0008c0009t0002g0275 a0010c0014t0001g0121 a0010c0014t0001g0122 a0011c0013t0002g0279 a0011c0013t0002g0334 a0017c0020t0001g0196 a0018c0022t0001g0212 a0019c0019t0001g0235 a0020c0018t0002g0344 a0021c0021t0002g0292	243	386	0.6295	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734		chr3	TogoVar
CXorf49_chrX_71709371_71723285	71717705	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0006 a0012c0005t0006	a0012c0005t0006g0026 a0012c0005t0006g0026	1	73	0.0137	-1	c.446 others(4): Show c.446delC	p.Pro others(5): Show p.Pro149fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	580/1854	446/1545	149/514		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71717972	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0006 a0012c0005t0006	a0012c0005t0006g0026 a0012c0005t0006g0026	1	73	0.0137	-1	c.179 others(4): Show c.179delG	p.Gly others(4): Show p.Gly60fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	313/1854	179/1545	60/514		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71718024	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0006 a0012c0005t0006	a0012c0005t0006g0026 a0012c0005t0006g0026	1	73	0.0137	-1	c.127 others(4): Show c.127delG	p.Val others(4): Show p.Val43fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	261/1854	127/1545	43/514		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71718051	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0006 a0012c0005t0006	a0012c0005t0006g0026 a0012c0005t0006g0026	1	73	0.0137	-1	c.100 others(4): Show c.100delG	p.Ala others(4): Show p.Ala34fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	234/1854	100/1545	34/514		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146811328	AGGTTTGT others(3365): Show AGGTTTGTAAGAATGGAATCATAAGATATGTACTCTTTATTTTTTTCTAG TCCAGCTTCTTAGAACAACTATCTTTCCTTCCCAAAGATATTTTGTTTTG TTGGTCTGCTTTTTAAAAGATTGCTGTGGTCAATACGTTTTAATCATGTG TCTACGGGAGTGGTCTTAAAACAGCACAATTTCTCATTATATTTTAATGA ATACTTATTGTATTCTACAAGGAAATTCATGCAGATAATTTCCTGTTATA CCATTGGCCTCAGGTATCACCTGACTCAGTTGTTGCTGTTTCTTTCTAAA GCAAGCTCCTAAGGATGTGGTATTTCTTGCAGTGCACTTTGGGCCATAAG CCATGGTCCTGTATGACACACATACACCAGCATTTAAACAATATTTCTAA AACAATAATAGTACAGTCATTGATTTTAAAATAAAGGAATAAATAATCTG AGTTTTTCCTGTGCTGTCATTCCATGTGACCACTTGTTTGGATGATGCCT AAGTTAATAAAACAAAGTATGAATGGCAAGGTATAAATGTTTGAGAAGTT CAAATCTTTACTTCATTTCAACAAAAAATACTTTGTAAAATTGAACTATA TCTCTAAAAGTAAAATTTATTCTTCTTTAATTGTTTAATAGTTATTTTAG AACTACAGACCAATTCAAGGAAATCAAATGTTACATATGTGGATAATTTA TTAATTGACTAATTTGTCCCTTCTGCATAATTTTTGGTTTTCTTAAAGTA CCATTTTATATGTTACTTTATATATGTGTATATACACATATATATGTATA TATATACACATATATACACGTGTATATATGTATGTACACATATATGTATA TACACACATATATACACACATATATGTACACATATATGTGTGTATATACG TATATACACATGTGTATATACGTATATACACATATATGTATATACACACA TATATACACACACATATGTACACATATATGTGTACATATATGTGTGTATA TATGTGTGTATATACATATATGTGTACATACATATATACACGTGTATATA TGTGTATATATATACATATATATGTGTATATACACATATATAAAGTAACA TATAAAATGGTACTTTAAGAAAACCAAAAATTATGCAGAAGGGACAAATT AGTCAATTAATAAATTATCCACATATGTAACATTTGATTTCCTTGAATTG GTCTGTAGTTCTAAAATAACTATTAAACAATTAAAGAAGAATAAATTTTA CTTTTAGAGATATAGTTCAATTTTACAAAGTATTTTTTGTTGAAATGAAG TAAAGATTTGAACTTCTCAAACATTTATACCTTGCCATTCATACTTTGTT TTATTAACTTAGGCATCATCCAAACAAGTGGTCACATGGAATGACAGCAC AGGAAAAACTCAGATTATTTATTCCTTTATTTTAAAATCAATGACTGTAC TATTATTGTTTTAGAAATATTGTTTAAATGCTGGTGTATGTGTGTCATAC AGGACCATGGCTTATGGCCCAAAGTGCACTGCAAGAAATACCACATCCTT AGGAGCTTGCTTTAGAAAGAAACAGCAACAACTGAGTCAGGTGATACCTG AGGCCAATGGTATAACAGGAAATTATCTGCATGAATTTCCTTGTAGAATA CAATAAGTATTCATTAAAATATAATGAGAAATTGTGCTGTTTTAAGACCA CTCCCGTAGACACATGATTAAAACGTATTGACCACAGCAATCTTTTAAAA AGCAGACCAACAAAACAAAATATCTTTGGGAAGGAAAGATAGTTGTTCTA AGAAGCTGGACTAGAAAAAAATAAAGAGTACATATCTTATGATTCCATTC TTACAAACCTCCAGAAAATAGAAACAGATAGTGACAGAAAGCAAATCAGC GGGTTTTTTTGAGAATGATGGTGGAGGTAGGGACAGGGAAGAATTGCCAA ACGGCATGAGAAAACTTTAGGGGGTAATGGGTATGTTCACTCTTATAGTT GTGATGGTTTAACAAGAGCAGATGTGACAAAACTCATCAAACTGTATACT TTTTAAGCATGTGCAGTTTGTCATATGTCAATTATACTTCAGTAAAGCTG TTGAAAAATGATATTCTCTTTAGGGATAAAAACAACTTTGGAAAAATAAA AATAAAAGACGGAGAGAGAGAGCTATCTTGTTTTAAAATTCTCTGTAGAC AATGCTCTCATTCACTGCCCGCACTAGAGGTAGACCACTCCCATTGCCCT GCCCCGCCCTAAGCTTTTTAAGAAGGTGGGCTAGTCAGTGTTGGATTTGT GGCATCTAGTAACCATTATTTCAGGTGCTGCTGGTAACTTTTAGAGATAT TTGGCCCTTTGAAGGGCATTTAGTTGCTTATATCATAGGGTGGGGTGTAC CTCATACCTACCATTATGAGGTAGATGGCCTGCAGGTTATCTCTTGTCTG TTTTTGGGGATAGTACTGCCACCCACACACCTCACCCCATACAGGTTCTG ACAATCAATACACTGAAGTCACATCCCTCTTTCCCCACCAAAACACACAC AGGTAGAAACACCAACCCCTTTCACTCTTTGTGTATTAAAAAGTGTTCAG GAAATTTATCTTCAGTGCTTAGTCCTGAGCCAGTCCTTATCCCCCCAGTT TCCAGCTGTGGACCTGTTGGTCTGGCCTCAAACCCCACAGAAGCCACCTC CCTGCCTTCTCACACACACCTCCCTCTTCCCCTCACTCCTTCCTTCCTCA CCATCAGAGAAGTCACAGAGACATATCCTTTCGATTCAGGTTGATTTTAT TTTCATGGTTTTAACCTGTTGGTGTAGAATTCACTGACTGTATGATTGAT GACTTTTCAGTGGCGGACCTCTAGAGACATCACAGAACTGAGGTCTCGCT TTGCTCTTTGTCGGCCTCTTCTTTCTTCATTTTTTCTTTCAGCCGGTGAT AACGACCACGCAGTATTGGTCCTCTAGCTTTCTTAGGTTTTCCTGCAGGG GTGTTAGTTTCACCGGCTTTTTGGCTCGAGCTCCCTCGAAGGGGTCTTTT CGCCTTCCTGGTGGTCTTTAGGCCCTACAGGGAGATCACAGTCAGGCCAG AGGGCGTTGGTTTTGGGAAAGAAGGTGGGAAATGCATAGGAATAGGCTTC ATGAGAAGGGTGTGAGTTGAGGAGGGGGTTTGAGTGAGGCAAGGAAAGGA TAGGAGTCTTGGGGTGGCGGAATCAGTGGGGCAAAGAGAAGGGGTTTGGT CGGGATCATCTCACCTTAACGCCGCTTCTGGACCTTCGTTGACGGGGTGT CTTCCCCTTCTTCCTCCCTTTGGTACTTGAGGTTGATGGGGTCTGTTCGT CCACATCTTCATTAGGCTTCTGT	A A	exon_loss_variant exon_loss_variant	HIGH	HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show HG01071.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp1 NA18940.hp1 NA18951.hp1 NA18970.hp1 NA19011.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0004 a0000c0002t0002g0004	13	264	0.0492	-3372	c.24_ others(8): Show c.24_*2878del		CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding	2/2					chrX	TogoVar
CYP2F1_chr19_41109432_41133381	41116202	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0002c0003 a0002c0005 others(11): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0017 a0002c0018 a0002c0019 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0013c0034	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0003t0003 a0002c0005t0002 a0002c0005t0006 a0002c0005t0010 a0002c0005t0014 a0002c0010t0003 a0002c0017t0002 a0002c0018t0003 a0002c0019t0002 a0002c0028t0003 a0002c0029t0003 a0002c0030t0002 a0002c0031t0002 a0002c0032t0002 a0002c0033t0002 a0013c0034t0002	a0002c0002t0001g0063 a0002c0002t0002g0002 a0002c0002t0002g0003 others(101): Show a0002c0002t0001g0063 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0052 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0127 a0002c0002t0011g0009 a0002c0002t0017g0123 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0095 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0116 a0002c0003t0003g0117 a0002c0003t0003g0118 a0002c0003t0003g0125 a0002c0003t0003g0128 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0138 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0005t0002g0006 a0002c0005t0002g0007 a0002c0005t0002g0025 a0002c0005t0002g0026 a0002c0005t0002g0031 a0002c0005t0002g0032 a0002c0005t0002g0033 a0002c0005t0006g0110 a0002c0005t0006g0111 a0002c0005t0006g0112 a0002c0005t0006g0113 a0002c0005t0006g0119 a0002c0005t0006g0120 a0002c0005t0006g0148 a0002c0005t0006g0149 a0002c0005t0010g0007 a0002c0005t0010g0037 a0002c0005t0010g0039 a0002c0005t0014g0035 a0002c0010t0003g0129 a0002c0010t0003g0137 a0002c0010t0003g0139 a0002c0010t0003g0142 a0002c0010t0003g0156 a0002c0017t0002g0053 a0002c0017t0002g0068 a0002c0018t0003g0109 a0002c0018t0003g0122 a0002c0019t0002g0036 a0002c0019t0002g0038 a0002c0028t0003g0115 a0002c0029t0003g0114 a0002c0030t0002g0077 a0002c0031t0002g0034 a0002c0032t0002g0070 a0002c0033t0002g0054 a0013c0034t0002g0091	114	374	0.3048	1	c.15d others(3): Show c.15dupC	p.Thr others(3): Show p.Thr6fs	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	2/10	88/1847	16/1476	6/491	INFO_REALIGN_3_PRIME	chr19	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0009 a0002c0003 a0002c0006 a0002c0009	a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	62	460	0.1348	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0007c0019 a0011c0028 a0012c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0075 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0003t0006 a0001c0003t0013 a0001c0003t0059 a0001c0003t0105 a0001c0003t0123 a0001c0004t0047 a0001c0004t0055 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0104 a0006c0017t0041 a0007c0019t0047 a0011c0028t0001 a0012c0030t0019	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(77): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0228 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0098 a0001c0002t0021g0125 a0001c0002t0023g0120 a0001c0002t0075g0176 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0123g0238 a0001c0004t0047g0097 a0001c0004t0055g0185 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0104 a0002c0005t0001g0105 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0137 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0104g0237 a0006c0017t0041g0122 a0007c0019t0047g0100 a0011c0028t0001g0054 a0012c0030t0019g0088	80	316	0.2532	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DMBT1_chr10_122555754_122648736	122602824	TTAAGATG others(8111): Show TTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATC TTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTT GACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCT CATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAAT CCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGA GTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTG GGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGG CCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATT GTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTG CCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTG GTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGG TTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGA ACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCC CTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGT CACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCT TCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCA GGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGAC ATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTC TGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGA GGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCT GGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTC CTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAG GGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTC GGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCC TTGCTGACTCAGGAACACC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02683.hp2 HG02698.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18944.hp1 homoSapiens_chm13v2.hp1	a0006 a0009 a0011 others(4): Show a0006 a0009 a0011 a0031 a0037 a0074 a0081	a0006c0010 a0009c0011 a0009c0102 others(6): Show a0006c0010 a0009c0011 a0009c0102 a0011c0019 a0011c0038 a0031c0032 a0037c0100 a0074c0057 a0081c0058	a0006c0010t0001 a0006c0010t0003 a0006c0010t0004 others(8): Show a0006c0010t0001 a0006c0010t0003 a0006c0010t0004 a0009c0011t0003 a0009c0102t0002 a0011c0019t0002 a0011c0038t0001 a0031c0032t0002 a0037c0100t0002 a0074c0057t0002 a0081c0058t0003	a0006c0010t0001g0011 a0006c0010t0001g0140 a0006c0010t0003g0139 others(15): Show a0006c0010t0001g0011 a0006c0010t0001g0140 a0006c0010t0003g0139 a0006c0010t0003g0264 a0006c0010t0004g0226 a0009c0011t0003g0001 a0009c0011t0003g0057 a0009c0011t0003g0084 a0009c0102t0002g0085 a0011c0019t0002g0069 a0011c0019t0002g0071 a0011c0019t0002g0072 a0011c0019t0002g0073 a0011c0038t0001g0082 a0031c0032t0002g0231 a0037c0100t0002g0070 a0074c0057t0002g0203 a0081c0058t0003g0116	21	282	0.0745	-8118	c.408 others(15): Show c.4085-84_4859-86del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	34/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0008 a0009 a0016 others(81): Show a0008 a0009 a0016 a0017 a0018 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0172 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0202 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211 a0212 a0213 a0214 a0215 a0216 a0217 a0218 a0219 a0220 a0221 a0222 a0223 a0224 a0225 a0226	a0008c0214 a0008c0262 a0008c0266 others(98): Show a0008c0214 a0008c0262 a0008c0266 a0008c0272 a0009c0210 a0009c0212 a0009c0217 a0009c0270 a0016c0268 a0016c0271 a0016c0277 a0017c0016 a0017c0199 a0018c0017 a0018c0202 a0031c0218 a0031c0263 a0032c0244 a0032c0267 a0033c0021 a0034c0020 a0035c0198 a0035c0203 a0036c0229 a0036c0237 a0037c0224 a0037c0226 a0038c0019 a0039c0222 a0039c0223 a0040c0018 a0041c0253 a0041c0254 a0159c0251 a0160c0240 a0161c0250 a0162c0239 a0163c0252 a0164c0193 a0165c0184 a0166c0191 a0167c0192 a0168c0183 a0169c0188 a0170c0190 a0171c0189 a0172c0186 a0173c0187 a0174c0185 a0175c0242 a0176c0216 a0177c0246 a0178c0243 a0179c0264 a0180c0269 a0181c0265 a0182c0273 a0183c0211 a0184c0276 a0185c0245 a0186c0247 a0187c0248 a0188c0209 a0189c0206 a0190c0205 a0191c0201 a0192c0200 a0193c0196 a0194c0204 a0195c0213 a0196c0215 a0197c0194 a0198c0207 a0199c0197 a0200c0195 a0201c0208 a0202c0241 a0203c0231 a0204c0236 a0205c0225 a0206c0230 a0207c0235 a0208c0232 a0209c0234 a0210c0228 a0211c0233 a0212c0227 a0213c0238 a0214c0220 a0215c0221 a0216c0219 a0217c0274 a0218c0275 a0219c0249 a0220c0255 a0221c0256 a0222c0258 a0223c0259 a0224c0261 a0225c0257 a0226c0260	a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 others(99): Show a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 a0008c0272t0001 a0009c0210t0001 a0009c0212t0001 a0009c0217t0001 a0009c0270t0006 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0017c0016t0003 a0017c0199t0003 a0018c0017t0011 a0018c0202t0006 a0031c0218t0002 a0031c0263t0002 a0032c0244t0003 a0032c0267t0005 a0033c0021t0002 a0033c0021t0004 a0034c0020t0006 a0035c0198t0002 a0035c0203t0002 a0036c0229t0005 a0036c0237t0005 a0037c0224t0001 a0037c0226t0001 a0038c0019t0003 a0039c0222t0002 a0039c0223t0002 a0040c0018t0001 a0041c0253t0003 a0041c0254t0003 a0159c0251t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0163c0252t0001 a0164c0193t0004 a0165c0184t0001 a0166c0191t0003 a0167c0192t0005 a0168c0183t0004 a0169c0188t0003 a0170c0190t0026 a0171c0189t0021 a0172c0186t0001 a0173c0187t0024 a0174c0185t0001 a0175c0242t0001 a0176c0216t0003 a0177c0246t0001 a0178c0243t0002 a0179c0264t0005 a0180c0269t0004 a0181c0265t0003 a0182c0273t0017 a0183c0211t0012 a0184c0276t0013 a0185c0245t0005 a0186c0247t0002 a0187c0248t0001 a0188c0209t0002 a0189c0206t0004 a0190c0205t0001 a0191c0201t0003 a0192c0200t0012 a0193c0196t0023 a0194c0204t0002 a0195c0213t0003 a0196c0215t0003 a0197c0194t0001 a0198c0207t0002 a0199c0197t0004 a0200c0195t0002 a0201c0208t0006 a0202c0241t0001 a0203c0231t0005 a0204c0236t0002 a0205c0225t0002 a0206c0230t0010 a0207c0235t0001 a0208c0232t0003 a0209c0234t0005 a0210c0228t0003 a0211c0233t0002 a0212c0227t0003 a0213c0238t0003 a0214c0220t0001 a0215c0221t0001 a0216c0219t0001 a0217c0274t0003 a0218c0275t0002 a0219c0249t0002 a0220c0255t0002 a0221c0256t0007 a0222c0258t0007 a0223c0259t0007 a0224c0261t0007 a0225c0257t0007 a0226c0260t0016	a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 others(104): Show a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 a0008c0272t0001g0185 a0009c0210t0001g0209 a0009c0212t0001g0216 a0009c0217t0001g0182 a0009c0270t0006g0148 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0017c0016t0003g0172 a0017c0016t0003g0173 a0017c0199t0003g0141 a0018c0017t0011g0170 a0018c0017t0011g0171 a0018c0202t0006g0163 a0031c0218t0002g0130 a0031c0263t0002g0140 a0032c0244t0003g0180 a0032c0267t0005g0186 a0033c0021t0002g0144 a0033c0021t0004g0152 a0034c0020t0006g0138 a0034c0020t0006g0145 a0035c0198t0002g0143 a0035c0203t0002g0162 a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 a0037c0226t0001g0136 a0038c0019t0003g0156 a0038c0019t0003g0190 a0039c0222t0002g0181 a0039c0223t0002g0178 a0040c0018t0001g0128 a0040c0018t0001g0157 a0041c0253t0003g0179 a0041c0254t0003g0161 a0159c0251t0004g0198 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0163c0252t0001g0199 a0164c0193t0004g0188 a0165c0184t0001g0225 a0166c0191t0003g0189 a0167c0192t0005g0197 a0168c0183t0004g0211 a0169c0188t0003g0214 a0170c0190t0026g0219 a0171c0189t0021g0196 a0172c0186t0001g0210 a0173c0187t0024g0187 a0174c0185t0001g0224 a0175c0242t0001g0129 a0176c0216t0003g0158 a0177c0246t0001g0231 a0178c0243t0002g0195 a0179c0264t0005g0146 a0180c0269t0004g0151 a0181c0265t0003g0147 a0182c0273t0017g0149 a0183c0211t0012g0232 a0184c0276t0013g0154 a0185c0245t0005g0127 a0186c0247t0002g0167 a0187c0248t0001g0230 a0188c0209t0002g0164 a0189c0206t0004g0174 a0190c0205t0001g0229 a0191c0201t0003g0131 a0192c0200t0012g0134 a0193c0196t0023g0169 a0194c0204t0002g0165 a0195c0213t0003g0142 a0196c0215t0003g0202 a0197c0194t0001g0159 a0198c0207t0002g0166 a0199c0197t0004g0176 a0200c0195t0002g0168 a0201c0208t0006g0177 a0202c0241t0001g0194 a0203c0231t0005g0192 a0204c0236t0002g0213 a0205c0225t0002g0204 a0206c0230t0010g0203 a0207c0235t0001g0206 a0208c0232t0003g0208 a0209c0234t0005g0212 a0210c0228t0003g0191 a0211c0233t0002g0205 a0212c0227t0003g0135 a0213c0238t0003g0193 a0214c0220t0001g0200 a0215c0221t0001g0233 a0216c0219t0001g0223 a0217c0274t0003g0184 a0218c0275t0002g0183 a0219c0249t0002g0217 a0220c0255t0002g0160 a0221c0256t0007g0221 a0222c0258t0007g0228 a0223c0259t0007g0220 a0224c0261t0007g0227 a0225c0257t0007g0222 a0226c0260t0016g0226	107	298	0.3591	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DNAH14_chr1_224924675_225404286	225392969	GCCCTGCC others(7352): Show GCCCTGCCACTCCCACGCCACTGTCCCCACTGATTTGAAGGGCCACAGCT GTCATTTTCTAAATTCCAATTTGTTCTGGGAATCTATTTTTCTGCTCCAG GACTAATGCTGGGGAGGAAGGGGAGACAGGGTTGGGAGACATTGGTTTAA AGATTTGAAAAAACAAAAAGAATGTGAAAGGATGCTCAATATCTTTAGTC AGAGAAATGCAAATCAAAATGATAATGAAATACCATTTTACACCCACTAG GTTGGCTATAACCAAAAGAATTGAAAAAATAGTAATAAATAAATAAGTAC AATCATGTACCACTTAACGATGGGGATACATTCTGAGAAATGCATCGTTA AGAGTGTACTTCCACAAACCTACACGGCATAGCCTACTGCTTACCTAGGC TAAATGGGATAGCCTATTGCTGCCAGGCTACAGACCTGTACAGCATGTTA CTGTATTGAACACTGCAGGCAGTGTAACACAATGGTAATTTGTGTACCCA AACACATCTATACATAGAAATGCATGGATGCATTCCTCTACATCATCGCT AGGTGATAGGAATTTTTCAGCTCCATCATAATCTTATAGGACCAGCTTGG TATATGTGGTCTGTCATTGGCACAAATGTTGTTATGGAGCTCATGATTAA ATACACTGAGGGTCATACATGGCCATATGTTTAGTTTTGGTGTAGATACT GCCAAATGGTTTTTCAATGTGGTTGTACCAATCCACAGGCCCACCAGTAA TGTAGAAGATTGCTCCACATCCCTGCCAACACTCGGTATTTTTAGTGTTT TAGTTTTAGTCATTCTAGTGGACGTGCAGTGATATATCTTTTTTTGTTTT TTTTTTGTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGG AGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CACCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGCGCCCA CCACCACACCCGGCTAATATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCCCCTGC TCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCC ACAGCGATGTTATCTTTATGATTTTAAATTGCATTTCCTTGATGATTAAT TAAGGTGGGCACCTTTTAAAATGATTATTGATATTTGGATTTCCTCTTTT GTGAAGATTCTGTTCAAGACTGTGGACTGTTTTTGTCGTATTGATTTATA GAAGTTCTTGTGTATTCTGAATATAAGCTGTCAGGTACATGTATTGAAAG CATCTTCTCCCAGTGTGTGACTTTCCAAATCACTTTCTTAATGGTGTCTT TTGATGAACAAAAATTTTTTTGTTTTAACAAAGTCCAGTGTATCCATCTT TTATTTAGGGTTAATGCTTTTTTATGTTCTGTTTAAGAAATCTTTGCCTA CCCTAAACTAAGTTCATGAAAATATTCTCCTGTTATCTTCTAGAAACTAT ATTGCTTTACCTTTCATTTTCTATGATCTATATATAATTGAAGGCCAGGC ACGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAAGGTGGGCA GCTCACCTGAGATCAGGAGTTCCAGACTAGCCTGGCCAACATGGCAAAAC CCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTTGGGTGGTGCGCAT GTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAACTT GGGAGGCAGAGGTTGCAGTGAGCAGAGATCGTGCTACTGCACTCCAGCCT GGGTGACAGAGAGAGACTCTGTCTAAAAAAAAAAAAAAAAAGGAGAATTG AGTTGTGTATGGCATGAGGTGAGATCAAAGTTCTTTTGGTTCCATATGGG TACCCACCTGACTCAGCACCATTTTTTCATTGAAATGGCCCTTTCCCTAC TTCAACTTTGTCATAGATCAAATAATTCTACATGCCTGGGCCTGTTTCTA TTGAAATAATCAGATAGTTTTTATCCTTTATCTCATTAACATGGTGGAGT ACATAGAACTATCTGGAGTGTAGTTGGTTATAAGGTATGATTCCTATATT AGGAATTTTTTAATGAAGAATGGAAGCTAAATGTGATGAGAGAGCTTTTC AGGGTTTATGGAGATTATCACATAATTTATCACTTTTATCAATATGATTT ATTAAAAGATCCTAAGGTTGAATCATCTTAATTGTAATATTTTATTCAAG ATTTTTGTATCAATATTTTATTTGATATTATTCTGTAGGATTAGGCCGGG CGCGGTGTCTCACACCTGTAATCCCAGCACTTTGTGAGGCTGAGGCGGGC AGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAG GAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCGCTCCAGCCTGC GCGACAGAGTGAGACTCCCGTCTCAAAAAAAAAAAAAAAAATTATTCTGT AGGATGGGGCGGGGGGCTTGGAGAGGGTGATGTTTTTAGTTTTTATTGTG CATATTATTGACGGTGGTTTCCTTATTCTAATCCTATCTGCCTTCTGTCT TTAGGGTTCTCACAGTTTCTGGTCCACTGGGGATACTTCTTGTTTTCCGG TGCTTTCATAGTTGCATTCTGGGATTTGGAGTGGGAGGAGGTGGTGGACA CTCATGCTGTTTGGCCTCTGGGTCCTGGTCTTCCTCTCCTCAGCACTCAT CAGACTGCACTAAGATGATTCCGAGACTACCCAGAATTAGTGAACGTTAG GAACATGTCAGAAGAAGGATGGAACTGGGAGAGTTTGTCCTACAAGGCAA AAGACTCTGAGGAGAAAAAGAAATATTGAAAAGGGTGATACATGAAGAAC TAGACTCTAATTCTGCTAGAACTCCAACCAGGGGGACCTCCAAGGGGAAG ACACATGCAGTTGATCTAAATTGATGATGATGGTGGCGTGTCCTTTTATA GACAGGGAGTTCCCTGTCACTGGAGCTTTAGGAGAAATCAGGTGACTGCT TGGCAAGAGTATTGACGTGGAAGAAAGCTCAGGTTCAGATGTGTTTTCGA CTGGAGGTTTATCCAACTGTTTATTTAAAATATGGGTCCAAAACTGCTCT GGCTGTTGGAAATATCGAGATGAACAACGTAAGGCCTCTGCCCTCTAGAA GATCCCAATCTACCTGATAATGATGGCACTGATGCTTGCTAGCCAACACT GACTAAGTACTATGTGCTAAGCTCTTTACCTGCATTATTTAATCCTCACA AATTAGCCTCATTCTGTAGGTCAGGAAACTAAGGTTCAAAGAGGCAGATC ATAAGCTTTGAACCCACCAAGTCTAGCTGACTCTACACCCATAGCCTAAC CTCTTCCTACATAACCCATTAGACATGAAAAGGCTACCGAGAGGCAGATG TGCACCAGGGCCTTTTCTTATGACTCACAGAGGGAGCACAGGGGTATGGA CTGCCCGCCTAAGTTTGCTTTTTGCCTCTATTCATCTAATCAGATGTTCT CACTTATTTCTGCTTTATACAAACAACCAGCTTCCACTGAGTTGAAGTAA GATTACTTCCATTTATTCTGAGTGGCTCTTTGAAGAGTTAAATCACTCCA AAAGGGGCTGTTTACAAATTACCTACAGTTTAGATTTTTCAGAGGAAAAA CCCATGTAAGCTATGACCAAGTTACACAAGTATAAATGGAAGTGACATTG TCAAATGCGTTAGATTAACTTCTTCCAAGATTGTTAGGAAAGGACAACAC TAGAACAAATGCAGTATAGGAAAATTTGCATTTATATAAGTTAAGGGGAA GAGAAGTAAAAAGCATTATACAAAGCAATTCCCAGTAAAATTCTTTTTTT TTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCCCC TGCCTCAGCCTCCCGAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC GCCCGGCCAAAATTCTTTTATAGAATAAGCCAAAATAGGAAGTGCTTAAT ATGAGTTCAGCTTGCACCTCCAGGTAGTCACATTCCAGAGTGGACAACAC AGAAGGCATCACCAGGCACAGCACAGGCTGTTCCACACTGCCTCCCCTGT GTCAACAAGCTGGCCCAGGCTGCATCAAGGGAGAGCTCAGGACAGCGGTG CCCACCCCTTCTCTTCAGAGACCTGCCCCATCAGAGGAGATGGCAGAGCC CTCCAGGGTGGCCTGGTACTTGGCCACCAGCTCCTCCAGGCTGGGCATCC CTCCAGCACACCTGCAGGAGAGCATGTGGCTTCACAGGCCTACCTCAGGC ACACCTGGAGTCACCTGGAATTGGAGCTGCAGGCAACTAAATTTTCTACT TCACAGACCTCATCAGAAACTCATTTTACTTAACCCTTTATCATTAAAAT GTAATCCTCTATTTAACCTATATCATTCAAAAATATATGGAACCCGGCCG GGCATGGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCGAAGAGAG ACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGATGA AACCCGATCTCTACTAAAAATACAAAAAATTAGGCGGGCGTGGTGGTGTG CTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGTGGGAGAACCGATGGAA CCCAGGCGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAG CCTAGGCAACAGAGCGAGACCCCATGTCAAAAAAAAAAAAAAAAAAAAAA ACCCCTCCTCTGCCTTTTTTACATTTCTAGAGCCTAAAACAGTAGTTATG GCCACTATGGTAAAGGTAGGTGACAATGTTTGAGCACAGTGTACTCTGTC ACCTTTTGTAACTGTTCTTGTTCTGTCCTAAAAAGCTCGGCTACACGATT ACAATTGTAGAAATTTGCATATTTATTGTGTTTGAAGGTCTTTGTCTTCA TGCTGAGGAAGGGTGTCATGGAAAAAATACATATATTTCAGTTCAGGATG ATTATATAGATACACCTAAGCCTATGTCGTTTTTAAAGCACTCAGAATAG GAAAAAAAATAAGTATTCACCTTAGAACTTGGGGCAACATGCCTTAGGCA GGATGAGCCCCTCTGGATCGGTCGGCTCAATTCCGGACGGAGCCTCCAGT TGGTCGCTGCTTCTCCTGGGGATCCCTGACACCACCTCTCTTCCATCTTA GGGCTCAGCTTCCTCTCACACTGGAGTTTACATTTTTGGTTTATTCATCG AGGGGGCAAGATGGAATCGTGAACAGAAAATACTGGAAGACTCGCTGCCT CTGGAGATGTGCTGTGATTTTCCCGACATATACTTTTTGCCAACAAAGGT AATCACCCTGCTATTATCCTGAAGTCCTAAACCTCTGAGCGTTGCTTCAG TAATATACAAACCACTCTTATTCCCATTCCCTACAATTTTGCAAGGGAGA TGTGATAATATACTCAGACAACAAAGATTTTAAATCTCCCAAAATATTAC TAAAATCTAAAGTAGATGCTATACTTACATCCCATGTTCTCAATAATATG TACTATAAAGCCATAATACTCTTTAAATTCTCCAGGTATAATTTCCACAT GCTGTTACATTAACCATTTAACCTTAAATGTATCTAATTCATAACAAATC CCTCAAGCCTAGCATACAGAAAATGTGAGCTACTGATTCACTTGAACTAT GCAATTTGACTACTGGATTTTTTTTTTTTTTAAAGATTTCTACCAAAACA CCAAATGCTTCCAACCAGACAGATTCAGAACTCTATGCTTTTGAATGCCC AGTTTACCAGACACCTGAGAGGTCAAGAATTTTGGCAACTACCGGTTTAC CAACAAACTTTTTAACATCAGTGTATTTATCAACGAAGAAACCTCCTAGT CACTGGATCACAATGCGGGTTGCATTGCTTTGTGAGAAGAATGAAAAATA AATGTCCATATCAAACCATTTTAATTTTTGACTCTAATCAGACTTACATG TTTCAAGACATTCACATGTAGTCAACACCCTTTATAAAATATTTGTGTGT TCAGCCAGACTGGGCAGGTGCAGTCTATTTCATTTGTACATGAAAACTTC AACACAGAGGGGAATCTTGCAGCTGCTTTTTATTCTAAGTACATGAGACC TGACTGTGCAATGTCCCTGTGGTTGGGCTCTAGTACAGGTCAGCACAACC CGGAATACAGCAAATTTGACTCTCCTAACAGTAAAAACCACAGCACCTGG CAGGATATCAGGGCATGCCTTTATGAACTTTTTGGTAAAAGTGGTTTATA AAATTATATACAATAAACTAAATATACACATGTAGAATAGATCTTTGGAA TACTTCCCCTGGCTTCTCTAAGTAAACACAGAATACTACACTGCTGACCT AGCTGCAGACTTCTGAAACAAAAGAGAAGGGCCTTCCTCTTTAAAGAAGT GCAGTCTGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGG GAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGACTTCGAAACCAGCCTA GACAACACGACGAAACCCATCTCTACTAAAAATACACAAATTGGCTGGGC GTGGTGGCGCAGGTCTGTAATCCCAGCTCAGGAGGCTGAGGCATGAGAAT CACTTGAGCCTGGGAGGCAGAGGTTGCTGTCAGCTGAGACTGTGCCACTG CACTCTAGCCTAGGTGACAGAGCAAGACTCTGTCTTGAAAAAAAATTGCG GTCTGGCTGGGTACAGTGGCTCATGTCTGTAATCCCGGCACTTGGGGAGG CCAAGGCAAGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTTGACA ACATAATGAGACCCTGTCTTTACAAAAAATTGTTTAAAAAATTAGCCAGG CATGATGAGGCACCTTTAGTCCCAGCTACTCAGAGTCTGAGGTAGGAGGA TGGCTTGAGCCCAGGAGGTTGAGGCTGCATTGAGCTATGATCACGCCACT GCACCCCAGC	G G	exon_loss_variant exon_loss_variant	HIGH	HG02683.hp1 HG02683.hp1	a0000 a0000	a0000c0102 a0000c0102	a0000c0102t0003 a0000c0102t0003	a0000c0102t0003g0177 a0000c0102t0003g0177	1	240	0.0042	-7359	c.134 others(15): Show c.13491+519_*1059del		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	85/86					chr1	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0004c0027 a0005c0008 a0006c0009 a0007c0011 a0009c0019 a0010c0029 a0011c0021 a0012c0026 a0013c0035 a0015c0031 a0016c0023 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0006c0009t0001 a0006c0009t0005 a0007c0011t0007 a0009c0019t0002 a0010c0029t0005 a0011c0021t0002 a0012c0026t0003 a0013c0035t0011 a0015c0031t0003 a0016c0023t0001 a0018c0030t0005	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(196): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0246 a0001c0001t0009g0024 a0001c0001t0009g0179 a0001c0001t0009g0332 a0001c0001t0010g0277 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0001c0007t0003g0342 a0001c0007t0004g0022 a0001c0007t0004g0117 a0001c0007t0004g0201 a0001c0007t0004g0234 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0008g0243 a0001c0007t0008g0244 a0001c0007t0012g0111 a0001c0007t0013g0238 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0015t0010g0178 a0001c0015t0010g0245 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0016t0002g0206 a0003c0016t0002g0271 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0006c0009t0001g0146 a0006c0009t0005g0012 a0006c0009t0005g0145 a0006c0009t0005g0147 a0006c0009t0005g0237 a0006c0009t0005g0273 a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030 a0009c0019t0002g0304 a0009c0019t0002g0329 a0010c0029t0005g0136 a0011c0021t0002g0182 a0012c0026t0003g0187 a0013c0035t0011g0097 a0015c0031t0003g0247 a0016c0023t0001g0131 a0018c0030t0005g0148	213	374	0.5695	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
DZANK1_chr20_18378367_18472030	18465378	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show HG00140.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG02071.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03704.hp1 NA18612.hp2 NA18906.hp2 NA18947.hp2 NA18954.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015 a0001c0020 a0002c0004 a0004c0012 a0004c0014 a0013c0035	a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 others(6): Show a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 a0001c0015t0004 a0001c0020t0001 a0002c0004t0001 a0004c0012t0001 a0004c0014t0001 a0013c0035t0011	a0001c0001t0002g0026 a0001c0001t0002g0261 a0001c0001t0002g0334 others(23): Show a0001c0001t0002g0026 a0001c0001t0002g0261 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0006t0001g0027 a0001c0007t0004g0022 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0020t0001g0023 a0002c0004t0001g0096 a0004c0012t0001g0253 a0004c0012t0001g0255 a0004c0014t0001g0250 a0004c0014t0001g0251 a0004c0014t0001g0252 a0004c0014t0001g0254 a0013c0035t0011g0097	30	374	0.0802	0	c.-19 others(5): Show c.-19-1G>T		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	1/20					chr20	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB8_chr20_32853923_32966845	32943738	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00642.hp1 others(28): Show HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp2 NA18951.hp2 NA18952.hp1 NA18998.hp1 NA19081.hp2 NA20129.hp2	a0004 a0005 a0008 others(5): Show a0004 a0005 a0008 a0011 a0027 a0029 a0032 a0037	a0004c0004 a0005c0037 a0008c0007 others(5): Show a0004c0004 a0005c0037 a0008c0007 a0011c0010 a0027c0029 a0029c0059 a0032c0064 a0037c0057	a0004c0004t0001 a0004c0004t0003 a0005c0037t0004 others(8): Show a0004c0004t0001 a0004c0004t0003 a0005c0037t0004 a0008c0007t0003 a0008c0007t0006 a0011c0010t0003 a0011c0010t0006 a0027c0029t0003 a0029c0059t0003 a0032c0064t0003 a0037c0057t0004	a0004c0004t0001g0089 a0004c0004t0003g0058 a0004c0004t0003g0059 others(28): Show a0004c0004t0001g0089 a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0066 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0073 a0004c0004t0003g0077 a0004c0004t0003g0084 a0004c0004t0003g0085 a0004c0004t0003g0086 a0004c0004t0003g0087 a0004c0004t0003g0189 a0004c0004t0003g0253 a0005c0037t0004g0183 a0008c0007t0003g0194 a0008c0007t0003g0280 a0008c0007t0003g0281 a0008c0007t0006g0013 a0008c0007t0006g0016 a0008c0007t0006g0044 a0011c0010t0003g0141 a0011c0010t0006g0009 a0011c0010t0006g0010 a0011c0010t0006g0030 a0011c0010t0006g0049 a0027c0029t0003g0117 a0027c0029t0003g0239 a0029c0059t0003g0071 a0032c0064t0003g0083 a0037c0057t0004g0249	31	284	0.1092	0	c.289 others(4): Show c.2893C>T	p.Gln others(4): Show p.Gln965*	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	23/27	2987/4197	2893/3867	965/1288		chr20	TogoVar

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Search Results (Total: 258 hits)