Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC22A24_chr11_63074940_63149221	63143377	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0003 a0007 a0013 others(2): Show a0003 a0007 a0013 a0017 a0018	a0003c0003 a0003c0009 a0007c0007 others(4): Show a0003c0003 a0003c0009 a0007c0007 a0007c0018 a0013c0015 a0017c0021 a0018c0019	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(7): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0009t0002 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0013c0015t0002 a0017c0021t0002 a0018c0019t0002	a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0022 others(80): Show a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0022 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0005g0005 a0003c0009t0002g0013 a0003c0009t0002g0014 a0003c0009t0002g0015 a0003c0009t0002g0016 a0003c0009t0002g0017 a0003c0009t0002g0018 a0003c0009t0002g0019 a0003c0009t0002g0020 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0013c0015t0002g0011 a0013c0015t0002g0012 a0017c0021t0002g0084 a0018c0019t0002g0021	86	366	0.2350	0	c.402 others(5): Show c.402+1G>A		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	1/9						chr11	TogoVar
SLC22A2_chr6_160211755_160263821	160250615	C C	T T	stop_gained stop_gained	HIGH	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0210 a0006c0012t0002g0210	1	310	0.0032	0	c.606 others(3): Show c.606G>A	p.Trp others(4): Show p.Trp202*	SLC22A2	ENSG00000112499.13	transcript	ENST00000366953.8	protein_coding	3/11	670/2409	606/1668	202/555			chr6	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0010 a0011 a0013 a0018	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0010c0016 a0011c0019 a0013c0020 a0018c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0010c0016t0001 a0011c0019t0001 a0013c0020t0001 a0018c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0017t0001g0069 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0059 a0006c0011t0001g0030 a0006c0011t0001g0063 a0006c0023t0001g0064 a0010c0016t0001g0031 a0011c0019t0001g0073 a0013c0020t0001g0037 a0018c0024t0001g0074	173	428	0.4042	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446			chr16	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): 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 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0009c0012 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0006c0006t0001g0001 a0007c0008t0001g0001 a0008c0007t0001g0001 a0009c0012t0001g0001 a0011c0014t0001g0001	317	412	0.7694	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338			chr17	TogoVar
SLC5A9_chr1_48217716_48253638	48242556	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show HG00099.hp2 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18906.hp2 NA18969.hp1 NA18989.hp1 NA19004.hp2 NA19030.hp1 NA19058.hp1 NA20805.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0003c0008 a0011c0022 a0003c0003 a0003c0008 a0011c0022	a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 a0011c0022t0002	a0003c0003t0001g0004 a0003c0003t0002g0004 a0003c0003t0002g0019 others(24): Show a0003c0003t0001g0004 a0003c0003t0002g0004 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0068 a0003c0003t0002g0133 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0255 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0269 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0310 a0003c0008t0002g0050 a0003c0008t0002g0261 a0003c0008t0002g0262 a0003c0008t0002g0268 a0003c0008t0002g0306 a0011c0022t0002g0067	38	420	0.0905	0	c.177 others(4): Show c.1777G>T	p.Glu others(4): Show p.Glu593*	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/14	1798/3162	1777/2046	593/681			chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0041 a0006c0008 a0006c0021 a0006c0045 a0006c0046 a0006c0047 a0006c0048 a0007c0007 a0008c0015 a0008c0022 a0008c0050 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0041t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0045t0003 a0006c0046t0004 a0006c0047t0004 a0006c0048t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0050t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(157): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0310 a0001c0002t0001g0326 a0001c0002t0001g0342 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0105 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0322 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0352 a0001c0002t0002g0365 a0001c0002t0002g0374 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0005t0001g0152 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0025 a0001c0005t0002g0103 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0315 a0001c0005t0002g0349 a0001c0005t0002g0350 a0001c0005t0002g0351 a0001c0005t0002g0353 a0001c0005t0002g0362 a0001c0005t0002g0369 a0001c0009t0001g0137 a0001c0009t0002g0047 a0001c0009t0002g0139 a0001c0009t0002g0141 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0159 a0001c0009t0002g0160 a0001c0009t0002g0161 a0001c0016t0001g0001 a0001c0016t0001g0069 a0001c0016t0001g0348 a0001c0016t0001g0368 a0001c0029t0002g0276 a0001c0041t0004g0296 a0006c0008t0003g0179 a0006c0008t0003g0213 a0006c0008t0003g0215 a0006c0008t0003g0226 a0006c0008t0003g0228 a0006c0008t0003g0230 a0006c0008t0003g0246 a0006c0008t0004g0192 a0006c0008t0004g0194 a0006c0008t0004g0225 a0006c0008t0004g0233 a0006c0021t0004g0184 a0006c0021t0004g0185 a0006c0021t0004g0186 a0006c0045t0003g0008 a0006c0046t0004g0188 a0006c0047t0004g0238 a0006c0048t0004g0229 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0014 a0007c0007t0002g0021 a0007c0007t0002g0049 a0007c0007t0002g0070 a0007c0007t0002g0072 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0084 a0007c0007t0002g0341 a0007c0007t0002g0363 a0007c0007t0002g0364 a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 a0008c0015t0004g0255 a0008c0015t0004g0257 a0008c0022t0003g0256 a0008c0022t0003g0259 a0008c0022t0004g0261 a0008c0050t0004g0264 a0010c0012t0003g0032 a0010c0012t0003g0240 a0010c0012t0003g0241 a0010c0012t0003g0242 a0010c0012t0004g0239 a0010c0012t0004g0243 a0013c0018t0004g0031 a0013c0018t0004g0214 a0013c0018t0004g0227 a0015c0024t0002g0011	181	456	0.3969	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29595414	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0038 a0001c0005t0026g0038	1	330	0.0030	0	c.-11 others(6): Show c.-115+2T>G		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(108): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0138 a0001c0001t0005g0028 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0006g0010 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0007g0001 a0001c0001t0007g0070 a0001c0001t0010g0158 a0001c0001t0011g0024 a0001c0001t0011g0125 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0013g0078 a0001c0001t0014g0071 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0015g0021 a0001c0001t0015g0079 a0001c0001t0016g0080 a0001c0001t0016g0081 a0001c0001t0017g0073 a0001c0001t0017g0075 a0001c0001t0018g0013 a0001c0001t0020g0123 a0001c0001t0026g0007 a0001c0001t0027g0122 a0001c0001t0028g0066 a0001c0001t0029g0065 a0001c0001t0030g0001 a0001c0001t0031g0108 a0001c0001t0032g0074	140	294	0.4762	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMCO2_chr12_27441736_27507185	27495209	GTTTTCTC others(7014): Show GTTTTCTCTTTAGTGTGTATCTTAACATGTAATATAGAATGTATGTATGT GTTTAGCTGTTTATCACTTGCCCCCAGCCCCTGTAATAGATTGTATTCTT TGTCTATTTTGTTAACACTGTATCCTAGAACCTGTTAGCAGTAATCACCC AATAAATATGCTTTGCATAGATGAACGAGTTGAGTAGAGGAATTTAGTAC AAGGACATCTTCCTACATTAATAATCTAGTGGTTAAAGATTAGCATGTGG GTTTCATTTAGTTTTCTACCGTAGTGCTACCTTACACTGTGAATGTGTAT GTCTGCTTCTATTCAAGATGCACCTGCCAATGATCTGTTCATGGGACCTA TGTGTGATTTCTAATGTGGGCCCCCAAGGTGATCCAGAGGAAAAGCACTC AGCATTATCTATAGTAAGACTTGGAGACATTTAGAATTTTTTTAAGGTAC TTGATTACTCTTTTTTTTCAGGACCTTTGCAAGAATGTGGAACTGCTGAG TGCAAAGCTAAGGATGTATCAAATGGAGGCAGAGGACACTGACTCTCACA GTTCTGAGGAAATAGATACGGAAGAGATGGAGGCCCTGCTTCCTCAGGCC CCAGCATCCTTTTTAGTGCAGAAGTCTCCTCCCCGCAATACAGCATGGTA AGTCAGAGCAAGAGGCCATTCAGGGCTGGATGACTGCCCCAAAATGTATG GATTATGCTGGGATTGATTTTTTTCAAGTGTTGACTAAAATGTTTTGTTT TATTTTCGTTTGTAAATTATCTATGTTCTTTAAAAGTCATTGGAGTTCAT TGGAGTCATGGGATTTTTCTTATTTAGATAAAGATCTATTGCATTCGATA TATATAGATTGCTTTCTTACTGCTTCAGATAAATCTAAAGATTTATCTTT AGATAAATATATCTAAATATAGATAGATATATCTTCATGATCAAAGATAT ATGACCAAAGACCTCTTGTGGGTGGCTATTAATGTTAATTATATTTTTAG TTAGTCTGTTCCTTTTTGCCTGAAAACTCTTCCAAACAACATTAAGTCAA CACTTTAATTTTAAATTTTCTTCCATGATGGCTGCAAATACAGAGAAGCT TCTCTATACATTTCTATAGATATATAAAGATTTGTCTATGTATAGAGAGA TATAGATTTATTTCTATCTACATATCTATAGATGTATCTATAAAATCTAT CTATATCTATCTAAAATCTTAAAAGATGGTATCTATACATGATGAGGCAA CCACCTCCACTCTTATCAGTTATGTTCTTTTCATAAGAAATTTGAAAAGT TTTGTTTGCTGTGCAGGATGCCTTACCCTTGGATGGTATTGGAAACACAC TACCAGCAAATTCTGGCTCTTTGGATCCTGTCCAGGAGATGCCACACCAT CATTTACACCCTGAGAAGTAATTTCCTCTAAGAAAACATTTTTGATTCTT TATCTCCAACCACCAACCCAGGTAGAATCTCAGCTCTGTCTTCAATCAAG TCCTTTGCCCATTTTAAAGAATTGGGTTGTTCTTTTATTTTTTGCTGTTG AGTTGTAAAAGTTTATGTGCACACCTTGCACATAATCCTGTCGGACAGCC CATGGCATGTTATTGAAATTAAATTGTTTCACATCTGTCTTCTCCTAATA CTCCAAGGGATACACAAAAGCATGAATCTTATCTTCGTAATTTGGGGACT TGACGTATACAAGATGCTCATAATGCTCAAACAGATGTGTGCAGGCCACC TCATGTTGACCATCATAGGAGAGAGCATGTGCTGCCTCTTTGAATTTGCA GGATACGAGGTGCTTAGGTTAAACCATGTAGGAGATTGGGGGACCCAGTT TGACATGCATATTCCTCACCTGCAAGATAAATTTCCAGCTTGTCTAACAG TTTCACCTCCTATTGGAAATCTTCAGGCCTTTTGTAAGGAATCTAAGAGG TTTGATACTGAGGAGGAATTTAAGAAATGAGCATATCAGTGTCACATTCT GTTCCAGAGTAAAAATCCAGATATTATAAAAACTTGAAAGTTTATCTGTG ATATCTCCTGCCAATAGTTTAGTAAAATCTATGATGCTCTGGACATCTCT TTAATAGATAAAGAATAATTCTTCTGTCAAGATAGGATGAATGATGTAAA GGAATTTGATGATAGATGATTTGTGCAAGTGGATGATGGCAGAAAGTTTG TGTTGGTCCCAGGATGTTCCATACCATTAACCATGGTAAAATCAGATGGA GGCTGGGTGTGGTAGCTCATGCCTATAATCCAAGCACTTCGGGAGCCTGA GGCAGGTGGATCACTTGAGCCCCAGGAGTTTGAGACCAGCCTGGGCAACA AGGTGAAAACTTGTATCTACAAAAAAAAAAATTCAGTGACACATGCCTGT AGTTTTACCTACTGGGGAGGCTGAGGTGGGACTATCACCTGAGCCCAGGG AAGTCGAGGTTGTGGTGAGCCTGGAGATCGTGTCACTGCACTCCAGTTTG GGTAACAGAGTGAGACCTGGTCTCAAAAAAAAAAAAAAAAAATCAGATGG AGGTTATAACTATGATGCATCTGATCTGGCTGCTCTTAAGCAAAAACTAT TTGAGGAGAAAGAAGATATGGTTATCTCTGGGTGAACAGTGGACAATCTC TGCACTTCCAAAAAATATTTGCTGCTGCTCAAAAGATTGGTTGGTATGAT CCTAAAGTAACTAGAGTCTCCCGTGCTGGATTTGGTGTGTTGCTAGGGGA AGACAAGAAGTTTAATATATGTTCAGATGAAACAGTTCATCTCGTAGACC TGGAATAAGGACTAAAGTGATCCATGGACAAATTGAAGGAAAAAGAAAGA AGCAAGGTCTTAACTGCAGAGGAATTGAGTGCTGCTTAGACATCTGTTGC TTATGGCTGTATCAAATAAACTGAACTTTCCCATAACCGGTTGAGTGACA ACATCTTCTCGTTTGACAAAATGCTAGATGACAGAGGAAATACAGCTGCT TACTTTTTGTGTGGTTTCACTAGAACCAGGTCTATTGCACATCTGGCCAG TATCAATGATCAGATGCTCCAAAAAGCTGCTTGACAGACCAAGATTATTT TGCACCATGAGAAAGAATGGAAACTAGGCCATGGCATTTTATGGCTCCCT GAGATACAACAAAAGATTTTAGATGACTTACTTCTGGTTCTTGTGGTTCT ATATATGAGCTGGCAGCTACTTTCACAGAGTTCTATGATAGCTGCTATTG TGTGGAGAAAGATCGACAAGAGTGGAGAGATATTGAAGGTGAACATGTGG TGTACGCTGCTGCGTGAAGCAGTAGATGCTGTCCTGGCTGAGGAGTTCAA TATCCCGGGAATAAAACCTGTCCAAAGGATGTAATCCTGCTTAGGTTTGA ACACTGTATGTTTTTACCACACTGGTCACTAGCATTGTTTGCTTTTTTTT TAAATAACCATTATATTAACACAAGAACGTTTGTCAACTGTGAAAAAAAA ATAACTCTTACAACTCAACAACAAAAAGATAAACAACCCAGTTTGAAAAA CAGGCAAATGACTTGGATACACATTTCTTCAAAGAAGACACACAAACGGT CAACAAGCACATGAAAAGATGTTCAGCATCATTGGTCATTAAAAAAAACG TAAATCAAACCCACAATGAACCACAGTGGGATACCACTTAACATCCACTA AGATGACTACAGTAAAAAAGACAGACAATAACTAGCATTGGAGAGGATGT GGAGAAATTGGAACCCTCGTATATCACTGGTGGGATTGCGAAATGGTACA ACCACTTTTGAAAACAACTTGGCAGTTTCTAAAACGGTTAAATATAGAAT TACCACATGATTCCACAAGTCTACTCTTGGGTATATACTCAAAAGAATTG AAAATGTCCACACAAAAACCTGTACACAAATGTTCATGGCAGCATTATTC ATAATAGCCAAAAAGTAGAAACAATCCAAATGTCCGTTAACTGATGAATG GAAAAACAAAATGCAGTGTAGCCACACAATGAACTATTATTCAGCTGCAA AAAAGAATGATGTACTGATACATACCACAACATGATCTTAGAAAACATTG TGCTCAGTGAAAGACAGCCAGACACAGAGGGATATCCAAATGATTCCATC TATATGAATGTTCAAAGTAGGAAAATCCATATAGATTCAAAGTAGATTCA TGGTTTCCAGGCACAGAGTGTTGGGGAATAGGGAGATGGTGACTGCTCCA GGGAATGGGGTTTCTTTTTGGGGTGACAAAAATTTCCTGGAATTAGATAG TGGTGATGGTTGTACAGCCTTGTGACTAAACCAAAAGCCTCTGGATTGTA CAATGTATAGAGTGAATTTTATAGTATGTGACTAATAACTCCAAACCAAC CAACCAGACAAATAAGTAAATAGGTGAATGCCTTTCACGTATCGCTTTAT TGTGTTATATCGGAGGATTATAATCAGGCTGAGTTGCTCATCTTTTTCTC ACATGATTACATTCTAATTAAGATTGCCTGAAATTTTGCCCATCTCTTGT TAAAGAACTGGAGATATATTGGTTTAACTACAGCATATTTATACACTAAC ATCTTGAGGAAGTTTGCCTTATGGATTAATTCAATCATTATGAATCGATT TTTGCTGGTTTTAGCTTCACAAGGTGGCCTTTTATTGATAATGTCCCCTA GTCCTTCCATTCCCTTTATGGTCATCCCCTATGTACTGACCATAAATAAT GTGGAGATATTGGAAAAGATCAAAGGTTTTACACGTGGCAAGGTTTGAAA ATTAAATAAATAGTATTCAAAAGTTAAAAGAATATTTTATTATTTACCAA AGATGTCTAAAATGAATAAAATTATTAGTGACACATTTTTTTGGTTCTGT ACAGGTGATATGAGAAAACTTATTTCAATTTAGTTAACTATTTTTTTTTC CCAAAGAAAAATGTCTAGACCTTTTAAAATGAATATCATGCTTAGTAATA GAAAATTTAAATTTTTAAAACTTGTATTGACTTGTAAATAAAAATCAAAT GATTCATTACTGTCAAGAAATAAATATGAATTTAACTGTACCAAGAGTAT TTACCGTAGGACAGAAAAAACTAGATGAGTATACTCTAAATGTAGGGAAA AAATTAAACTAAAAACTAAGACAAAATAAAAAGAATGAATGAATAAATGG AAGAAAGGAAAAAAGATAAAAAATGTGTCTGGTTATATTTGGGTGATGAG ATTATAGTTTCCTCATTTCTCTGTTTTCCAAATTATCTTTGCTTTAGAAA ATTTGTTTTACTTTCCAAAAACTTAATGTTAAAATGTGTTTCTTTGAAAA TGTCATAGTTTAGTATTTCCAAAGATGACTGGTTTTTTAATTTAGGAGGA ACAGTGTTTATTTACTAGATAGTTTTCGTAGTGAGTTGTTTTTCTTTTCA TAAGAAAGAACAAATCTGCCTTTGGTGCTCCTTGAAGGCAGGACACATCT GCTTCCTGTTATCAGCTCTCTAAGCCCCTTCCTAATAGAGTATCTTAAGA ACATTGGCTCTTTAATAAATGTGTGAAGTGAAAGCAATTATGTGTGTAAC TGCCAAGTGATAGCCAGTGGGGATAATGGCGAGAAACTTGGCTCTGGTTT ATAAAACCACTGAGTTAGGTCACAAAATCGATCCATGGCTAGCTTTAACT ATGCTCTAGATTTTCTCTTCTGATGTATTATAGATGGTAATTATCTCAGG TAATTGGATGATCTATGACATTTCTTCTTTGTGTTCTTCTGGATTTTCTG CCCTAATCATATAATACATTTATAACTAGAAAATAATAATGCAAGGACTT AGAATCATATCAATAAAATATGTCATAGGTGCAACCCAGAAGGATGGGTC CTCAAGGATTTAAAAAAGCTTCTATTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGACATGAACCCAAGAGGCAGAGCTTGCAG TGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAACAAACAAAACAAAACAA AAAAAGCTTCTATTATTTTACAAATAAAAGTCTGGTGCCAGGACAAAAAC TAGGGGCAAAGAGCTCTGAATTCCCTTTATCACGTTATACTTTGTGTCCT GGGGAAAATCTAACTGCCTGTGCCTTTGTTTGCTCAAAAAGAGACATCAT ATACATCATGAGTGAGGTAAAGATTGCAATAACCTGCTAGGATGTGAGAA GGACATTTCAAAGGAAAGAACCCCACACTATCCAGGGATTTTATTGTTTC ATGGCTATAGGATCTTGAAATTCCAATGCCAGACCTAGCATGAACATAAA TAAGTGCTCCTCCATTCCAAGCTGCTGCTTTTACAAATGTAAACTGAAGT CAAGAGAAAATTACTTAGTTGAAGTTTTAGAGCTACCTGGGTGGAGGTGC CAGGAGCCTATCAATGTGATTATTTTCAGAATTTGGTTAACACAGATGTT TTCTCTCTTTGTAGGAAACGTGCACTGAGGATTTTCATCATGTTTGATGT CCTCACCGTCACTGGACTTTTATGTTACATACTATTTTTTGGTGCTACAT TTCTCTTTGAAAGGGTGCTTCTGAGAATGCTTGGGTGCCGCACCACATGG GACCTACGGGAGATGAGAGAGCCTTTCTTGAATTTGGAAGTGGAAGCCTT GTTACCCTCCTAAAGATACAGAAGTTACTGTCACCCTACTGACTTTCTCA CCAGTAAACATTGTGGCTGTTCCTGTATTGTGGTGGCTAACTTATTTTTC AAAAAATAACGTACAAGGTTTT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG02015.hp2 HG02055.hp1 HG02258.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18986.hp2 NA19011.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0000 a0000	a0000c0006 a0000c0010 a0000c0017 others(1): Show a0000c0006 a0000c0010 a0000c0017 a0000c0022	a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 others(2): Show a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 a0000c0017t0005 a0000c0022t0006	a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 others(16): Show a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 a0000c0006t0005g0289 a0000c0006t0005g0290 a0000c0006t0005g0291 a0000c0006t0005g0292 a0000c0006t0005g0293 a0000c0006t0005g0294 a0000c0006t0006g0006 a0000c0006t0006g0033 a0000c0010t0006g0238 a0000c0010t0006g0332 a0000c0010t0006g0333 a0000c0010t0006g0334 a0000c0010t0006g0335 a0000c0017t0005g0020 a0000c0017t0005g0024 a0000c0022t0006g0030	21	360	0.0583	-7021	c.658 others(12): Show c.658-470_*109del		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	8/9						chr12	TogoVar
SMIM28_chr6_138372905_138388486	138378132	T T	A A	stop_gained stop_gained	HIGH	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0015 a0003c0007t0002g0015	1	374	0.0027	0	c.60T others(2): Show c.60T>A	p.Tyr others(3): Show p.Tyr20*	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/2	228/1266	60/459	20/152			chr6	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0071 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0101 a0001c0001t0103 a0001c0001t0112 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0130 a0001c0001t0137 a0001c0001t0179 a0001c0006t0097 a0001c0007t0001 a0002c0002t0048	a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 others(82): Show a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0142 a0001c0001t0003g0153 a0001c0001t0004g0139 a0001c0001t0004g0316 a0001c0001t0005g0140 a0001c0001t0005g0150 a0001c0001t0006g0189 a0001c0001t0009g0008 a0001c0001t0011g0243 a0001c0001t0011g0262 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0276 a0001c0001t0013g0171 a0001c0001t0015g0296 a0001c0001t0016g0324 a0001c0001t0018g0315 a0001c0001t0019g0263 a0001c0001t0019g0269 a0001c0001t0019g0277 a0001c0001t0019g0278 a0001c0001t0019g0279 a0001c0001t0023g0331 a0001c0001t0025g0135 a0001c0001t0025g0185 a0001c0001t0026g0114 a0001c0001t0026g0133 a0001c0001t0027g0343 a0001c0001t0027g0347 a0001c0001t0027g0348 a0001c0001t0028g0144 a0001c0001t0033g0223 a0001c0001t0041g0345 a0001c0001t0042g0112 a0001c0001t0042g0151 a0001c0001t0045g0288 a0001c0001t0045g0332 a0001c0001t0046g0192 a0001c0001t0055g0115 a0001c0001t0055g0124 a0001c0001t0057g0294 a0001c0001t0059g0206 a0001c0001t0060g0260 a0001c0001t0060g0261 a0001c0001t0067g0361 a0001c0001t0071g0152 a0001c0001t0073g0344 a0001c0001t0081g0009 a0001c0001t0082g0123 a0001c0001t0084g0138 a0001c0001t0086g0131 a0001c0001t0090g0285 a0001c0001t0094g0336 a0001c0001t0095g0334 a0001c0001t0096g0333 a0001c0001t0101g0203 a0001c0001t0103g0274 a0001c0001t0112g0208 a0001c0001t0120g0335 a0001c0001t0121g0268 a0001c0001t0123g0339 a0001c0001t0124g0275 a0001c0001t0126g0270 a0001c0001t0130g0267 a0001c0001t0137g0338 a0001c0001t0179g0257 a0001c0006t0097g0337 a0001c0007t0001g0134 a0002c0002t0048g0219	85	366	0.2322	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SON_chr21_33538038_33582481	33576378	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 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 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	1	c.723 others(5): Show c.7236dupA	p.Ala others(6): Show p.Ala2413fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7292/8393	7237/7281	2413/2426		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33576390	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 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 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	-1	c.724 others(5): Show c.7248delA	p.Arg others(6): Show p.Arg2416fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7303/8393	7248/7281	2416/2426			chr21	TogoVar
SPATA22_chr17_3435019_3476819	3471678	GCA GCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show HG00140.hp2 HG00733.hp1 HG01358.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0012 others(1): Show a0001c0001 a0002c0002 a0005c0012 a0006c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0012t0002 a0006c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(39): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0002g0049 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0005c0012t0002g0281 a0006c0010t0001g0082	49	420	0.1167	-2	c.-74 others(13): Show c.-74+2_-74+3delTG		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	1/8						chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930210	TTTTTTTT others(9781): Show TTTTTTTTTTTTTTTTGCATGTTCTATTCATTTCAGGGATTCCTTGTAGC CTGCTGTAGTTTTGGGAGTGGGTAGCCATAGGAACGGATATGTGAATGAA TGCTTTGAGGAGAGGCTATAGTGAGGTCATATGACCTCACATACGGTGAG CTCATGGATGGGGGGTAATGTGAAGCAGGATTCAGGGGGCCCCACCCCTG CCAGGCTAACAGATCCTCATTTCCTTGTTCTGATCCTGGCTGCAGCTTTG GACCTCCTGTTTCCTGCAGTCCCCTGGGCCAGCATCATGATACCACCCTC TTTCGTCGACTGTTATGCCCAGACCCTGTCTGTCGGGTGTGTAACAGAGC AACTGCTGATATCCAGCGACTGCTGTCTTGGGAGTCCCTGAAAGATGCTG CTCCCTCTGTGTCCCCTTTGGCTTCTTCAGCTTCTGGGGCTGAGTCATCG TTCACTCTGGCTTCCACCCCCTCAGCAACCACTCCAGAAGACCTAATATT GTCCTCTCGGCCTAAGCCCTCTCCACCACCCCCCTTAATTCTCTCACCTG ACCTGATCACCACCTTAGCTGACTTATTTTCACCCTCACCACTGAGGGAC CCTCTGCCACCACAGCCTGTTTCTCCCTTGGATTCCAAGTTCCCCATAGA CCATTCCCCACCCCAACAGCTTCCCTTTCCCCTTCTCCCACCACATCACA TTGAGAGAGTGGAGCCCAGCCTCCAACCTGAGGCCAGTTTGTCTCTGAAC ACCATCTTTTCATTTGGCTCCACCCTATGCCAAGATATTTCCCAGGCCGT GAATCGCACTGATTCATGTGCTCGTCATCATGGACCACCAACCCCATCTG CTTTACCACCGGAAGATTGCACTGTGACTCAGTCTAAATCAAATCTCACC GTCTTGAAGACTTTTCCGGAAATGTTATCTCTAGGTGGCTCTGGTGGGTC ATCCACCTCTGCCCCAACAACGAAAGGCATTGACCATTCATGCCCTGCAT CTTCAGAATTCTCCTGGTGGCAGCCTCATGCCAAGGACTCTTTTTCCTCT AATTTTGTGCCATCTGATTTCATGGAGGAGCTTCTTACCCTTCATTCTTC TGAGGCCTCTTTAGGGGGGCACTCTGTGGCCAACATCATACAGCCTGTTA ACATCTCTTTTCTCAGCCATGACATTCCGGCACTCCTGGAGAGACAAGTC AAAAGAAGGGGTGATTTCCTGATGTGGAAAGAAAATGGAAAGAAACCAGG ATCATTCCCAACACAACTTAGGCCAAACTACCAACTAAATTCCTCACGGA ATATGTTAACCTCAACTGCTGTTAAGCATGACTTAGCAGAATCCTTTCCT TTTTGGGCCAGTAAAGGCAAACTAGAGTGGCAGCACATCCATCAGCAGCC CCCATATTCTAAGTGTTTTGAGGACCATTTAGAGCAAAAATATGTCCAGC TCTTCTGGGGTCTCCCATCTTTGCACAGCGAGTCTCTGCATCCTACTGTT TTTGTCCAACATGGCCGTTCCTCCATGTTTGTATTCTTCAATGGCATTAC AAATACATCTATGTCCCATGAATCCCCAGTACTTCCCCCTCCCCAACCTC TGTTCTTGCCTAGTACCCAACCTCTACCCTTGCCTCAAACCCTGCCCCGA GGTCAGTCCCTACATCTCACTCAGGTGAAGTCCCTGGCTCAACCTCAATC TCCATTCCCAGCCCTACCACCTAGTCCTCTATTCCTGATTAGGGTGTGTG GCGTGTGTTTTCATAGACCCCAGAATGAGGCACGGTCTCTTATGCCATCT GAAATTAATCATCTGGAGTGGAACGTGTTGCAGAAAGTGCAGGAAAGTGT GTGGGGTTTACCCTCTGTGGTTCAAAAATCCCAGGAAGACTTTTGTCCTC CAGCTCCCAATCCTGTATTGGTCAGAAAGTCCTTCAAGGTCCATGTTCCC ATCTCCATCATTCCTGGAGATTTTCCACTCAGCTCTGAGGTAAGGAAGAA ACTAGAGCAACACATTCGAAAGAGGCTCATCCAGCGCAGATGGGGCCTGC CCCGCAGAATCCATGAGTCTCTGTCATTGCTACGTCCTCAGAACAAAATT TCAGAGCTATCTGTGTCAGAGAGCATTCATGGTCCATTAAATATCTCTTT GGTTGAGGGTCAGAGGTGCAATGTTCTAAAGAAGTCCGCATCAAGCTTCC CTAGAAGCTTCCACGAGAGGAGCTCAAATATGCTTTCCATGGAGAATGTG GGGAATTATCAGGGATGCAGCCAGGAGACTGCCCCAAAAAACCATCTCTT GCATGATCCGGAGACATCTTCAGACGAGGATCTGAGGTCTAACTCTGAGA GAGACCTAGGAACTCATATGATGCATCTGTCAGGGAATGATTCAGGGGTG AGACTAGGTCAGAAACAACTTGAAAATGCCCTGACAGTACATTTGAGCAA GAAATTTGAGGAAATCAATGAGGGTCGAATGCCTGGGACTGTGCATAGTT CATGGCACTCAGTCAAGCAGACAATATGTCTTCCTGAGAAATCCCACAGC CAAATTAAACATCGAAATTTGGCAGCATTGGTGAGTGAGGACCACGGCGT TGATACCTCCCAGGAGATGTCCTTCCTTAGTTCCAACAAACAAAAGATGT TGGAAGCCCATATTAAATCTTTCCATATGAAGCCCATATTAAATCTTTCC ATATGAGGATGCTGTGGGGCCTTCCCCGCAAGATCCGTGAACCCATAGAA ATCTTCAAATCAGAAGAGGATATTTCCAATTCCTTTTCCCATTTCTACCT TCCCTCCTCAGCCAGCTTTATTTCTCAGGGAGATTCCAAAGATGGGGTCT CTAAGTCTCATAGACGAAGCACTTTTCAAGGAGAAAAGTTGGGAACAACA AGCTCAGTCCCTGTCCTTAATCATCCTCAGCCTGTCTCCTCACCTATTGG CAAAGAAGGGCAGGGGACCCTGAGAAGACAATTTTCTGATACTGACCATG ACCTTATAGAGACAGATGCCAAAGATGGTGCCTCCACGCCCCTTAGAAGA GGCACTACATATTTTCAAGGAGAAAAATTAGAAACAACAAGCTCATTCTC CATCTTGGGTCATCCTCACCTCGTCACCTCACCTGTTGATCAAGAAAAGC AGGGGACCCTCAGAAGAGAATTCGCTGATACTGACGAGGATCTTACAGAA AGTGTCTGGACAACTGAGGATGGCAGACAGACTTTTCTGCCCCCCACACA CAGCATCATAGACGAAGTCAGTCAGAAACAGACTGTACTTGCCAGTAGAT GCAGTGCAGAGCTGCCCATACTGCAAGCTGGAGTTGGCCGTGATTCAAGG GATAAGAGAGAGAGTGCCAGTAATAATGTTAACAGGCTTCAGGGCAGTAG AAAGACCTTTCCTGTCACCAATGGGTCGAAGGAGATGTTCAAGGAAGAGG AGATCTGTACTCTTCAATCACAAACTAGGAACAACTTGACAACCAGCAAG TCAGGAAGCTGCTTAGTGACAAACGTGAAAAGAAGCACTTCTCATGAAAC TGAAATTTTCCCACCAAGAATATCAGTTCCTCAAACTCCTAAATCATCAT ATCTTAAAAATCAGATGTTGAGCCAGTTAAAGTTGGTCCAGAGGAAGCAT AGCCAACCTCAGAGCCATTTCACTGGCATGTCTCTTGCCTTAGATAACTT GAGTTCCAAGGACTTACTGACTCATGCCCAGGGCATCTCGAATCAGGACT TGGGAACTTCCCAGGTGCTGCATGTCCACTTGGAGGTCAGAGGAATCCGT GTGGCACAGCAGCAGGAGCACAGGGTCCCTACGCATGTCTTACAGAAATG CCAAGTTAAGAATTTTTCACCAGCTACAAAGAGAGTGAGCCCTTTAAGAC CCAATGGAGGAGAGCTTGGTGGAGGGGATGCAGGGTTGGGGACATCCCAA CTCACTAGAAAGAGCCTCCCTGTTCATAACAAGGCATCAGGAGAGGTGCC TGGGAGCAAATCTTCCCCAACCTTGAAAACACAGCCTCCTTCTGAAAACC TTTTCAGAAAATGGATGCAGACCTTATTGCAGTGGTTTAATAAACCTAGC ATAATGTGTGAAGAACAAGAAAGTTCTTGGGAAAAGGGTAGCTCCCTGTC ATCATCTGTGCAGAATAGAAGTCGAGTTACAAGTAGAGCTGCTTTTACTG GTGCTACTGAAGCTCAGAAAATTAGGAAAGACACTGGGGAGTTCCTAGAA GAAAAGCTGGGGCATAGCCATGGGATAGATATCACCTGTCCCTAAGAACC CTTTTCCTTCCCAGTGGAGCTTGGGAAAGCTCAGCACAACCCAGAAGTGC AGGTCAGAGCAGAGCCCTTCCAGGGCTATCCCCGCAACTACACAGCTCCC TCCCGCAAAGTGACATGTACCAAATCTTGCAGCCAACAAGCTATCTTTGT TGGACAGAATTATCCTACAAGGATTAGACAGATCATAGACAAGGACAGAC AGCCCCAGGAAGTTGAGGCATTTAAGGGGAAGATATTGTATCAAAGGCAT CCCCAATCCATGCCCCACAGGGATCCTGTGCCACATCTAAACCCCACTTG TCAGCGTCAAGTCACCCTGGTGTGTCCAGCTGTCCCAATTAGTGGCAAAA GCACTGTGTTCAGTGATGTGCCTTTACTAACTGGACACAAAATGCATTGG AAGTATTTGCAGGGAGGCAAATCTCCCCCCACAAAATAATTCACTACTTG TTGAGAATCTTGATTCTCCCTAATAAATGTTCTAATAAGATTGGTGTCTT TTCTGTGTACTGTGTTGGGAGGTATAGGTTTTGGGTAACCCAAGCTTGTG CTTAGGGAAAGGTAGGAGTTAGCTCAGCTCTTACTGACTCCCTCTTTTGA CTTTTAAAAGGTGACCAATCCCCTGGAACTAGTGTGAAGGAATGAGTATC ATGTGCCTCCAAAAGCCCCTTTTCTCCCTGATCAAGTCTGAGGAGATGGG CTCTTTTCTACCTCTTTGCTTTAGACTTACTGATACCGTATGGCAGCCTG CACCTTCCTCCCCATTCACTGCTTCATATCCTTTAGAGCAGTAAGGAAGG CAGCCCTTCCATATCTGAAGAGAGAGTGAAGGACAGATACATTTTTCAGA AATAGTGGTTTAATCACTATTTAAAAAAAGTTGTCACTGACCACAGGATC ATATAAGTTGGTGGGAGTGTTTAGGGTATTGCTGGTTGGGGTAGGGTGTC AGGAACACTGTGGATGCTGCTTAAGAATTTGACAAGCAGGGCATGCTCAT GATTTAGGGAGGCATATTTTGACCTCAACGTTGAGGTCTTTCTACTAATA AGTCACTTGGGAAAGTAGTTCCCCTCCCTGTGTATTTCTCTATGCTACCT GGATTGATGACATTTTTACAGAGCAAAAAGATCACCTGGCTGTCTGTGGC AGGACTGCTGACCAGACAACCACCTACCTCCTAGGGTAAAATATAGCTTA CAGTAAGGAAAATATGTCTTTGAATGAGAAAGTAAGAAAAAAGTGAAGCT AGGAAAGGATGACCATGCTAGTCGAAAAAGGTTTATGCCCCATCATGCCC ATATCATGACCCTTTCTCAATCTGGATCTAGGTACCACCACCTTGAGGAT TACCAGGGCACTGAAGAGCTGACAGATGCCATTTTGGCAGAAGTGTACAT GGGGCTGTTCTTTAAGGAGTAAAACAGTATCTGCAGGGCTGTTGTCAACA TGGCATCCCTCTCTTTAGGGAAGGTGATCTTTGTGCCTTCTTTCTAGCCA TGTTGATGGCAACATGCAAGATCTTCCCTTAATGTATACGGTGCACCTCA GGATGGATGTGTCACCTCTGATCTTCATGGGGTTAGTGGAATATAATAAA TATTGTGTAGAACACCTGAAGCTCATGATCCAGAGGTGAGTCCTTGACTA TGCATGAGTATTACAGACATTTGGAGGCTAGCTATGAATCTTTACAGAAT GCTCCTTATGACTAAGAGTGTGCACATATGCACCCTTAAAATATTAGAGG TCTGAAGAGAAGGGAACTCCACTTATACAGACTGGGACTAATAAATGAGG TGAGTTTTCTAGAGGGCACTTGAGGTAGGTTTTCCAGAAAAATTTGTGAA TGCTTGGTGTCAAAACAAAAGCAAAACAAAACAAATCAAAACAGATGTCC ACTACAGCTCCCTCACTCAACCATCCTTCTCTTTTCCTGTCCATGCGTAT GCCACTGACCCTGCAGTGTCTGAAGTTTGGGATTGCAGAAATAATTCAGA TTTCAGGAAGGCTTTAAGAGAACAAAATTGGGATGAAGTCCAGGGCAAAG AACTTGTGGAGGTGGAGAATCAGCGACCCATGGATGCCTGGGGATTCTCC ATGTTCTTCCCTGTAAGCCTGTCCCCTAAGTCTTGTAAGGCAGCCAGCCA TGCTAATTGTTTTAAAATGACTGAAGGGGGCCCAGTATTTGGTTTGATTT GGTTCTAAAATGAAGGCCGAGAGCCTTGAAATGAAGGGACAGAGTTGGAG TCCGCTCCTCTATTCACCATGTCAATAAAGGTTGTACCTTGGTATCAGAC ATGAGCCCCCAGTTTGAAGGGGCTACATTATCTGGGGTATATGCCCTGGC GTTCATCATCTTGTGCCAGGAAAATTTAGAACACAGACACACACGAGGAG TTTAGGAGCAGATGTTTAATAGGCAGAAGATAAGAGAAAGAGAAACAGCT CTCTCTACAGACCAAGAAAAGTCTCCAAGTGGAAAAGACTGGCTGGCAGC GAATGCACCAGATTTTATAGTCAGGTTTGAGGAGGCAGTGTCTGATTTCC ATAGGGCTCACAGATTGGTTCAATCAGGTATGATGTTTACATAGTGTACA GGCAAGGCTGGTTGCCCCAACGTAATCTTATTGCACAAATGGGCTTTCCA GTTGATCGGTGCCATCTTGTCTGCTCCTTACTGTACATGTGGCTGACAGA GAAAAGAAGATGGAGCCACCATCTTGAACATGTCTAGTCCCCTAATTCCT GCTGGCATTCACTTGTGCAAGCTCCCAGCTTGCTTATCTATGTCTGCAGC TCGAATTTACAGGCTGCTCTTTGTTAGAAAATGATTTGGGGCTGATTCTC ATTAAAAAGAAAAGATTTACTGAGGACTCCCATACCCTTATTATCTGCCT AGGTAATTTCTTCTTAACTACTGTATCAGCAGCATTATAGCCCCAAAGTG AAAACAACCCAAATGTTCACCAACTAAATCAATAGATAAACAAAATGTGA TATATCCATACAATGGGATGTCACTTGTCCATAAAAAGAAATGAAGTATC TATACATGCTGCAACATGAACGGACCTTGAAAACATCATGGTAAGAAGCC AGACACAAAAATCCACATATTGTATGATTCCATTTAGATGAAATGTCTAG AAATGAAAAATAGATAGAGACAGAAAGTAGATTACTGGTAACATAGGGAG GAAGGCAAATATTGAGGGGTGAAGGCTAAGTGAAGCAGAGTTTCTTTTTG GGGTGATGAAAATGTTCTAAAATTGATTGTGGTGATACATGCATAACTGT GAATATGCTAAAAACTGTTGAATGGTATACTTTTGGCGAGTGAATTGTAT AGTATACAAATTATGTTTCAATAAATAATTTTTAAAAAGAAAGTTTATAT AGTAGCTTTATTCATAATTGGCAAAATTAGAAGCAACAGAAATGTCTTTC AGTAGGTAAGTAAATTTTTTTGTATATCCTAAAATGGAATATTATATGCC ATTGAAAAGAAATAAACTGGCAAAACATAAAAAAGGAGGAAAACTATTAA GTGAAAGAATACAATCTGAAAAGGGTGTATGATTCCAACTATATGACATT TGAAAATGGGCAAAACTATGAAGGCAGTAAAAAGGGCAATGGTTGTCAGG GGCTAGTGGGGAGGGGGGGATGAAGAAACAGCACAGAGGATTTTTAGGGC AGTGAACTATTCTACATGATAGTACAATAGTGGATATGGGTCATTATACG TTTGTCAAAACCCACAGAATGTACAACATCAAGAGTGAACGTTAATGTAA ACTACGGACTTTGGATAATAGTGATGTGTAACAAATGTACCACTCTAGTA TGGGATGTTGACAACTGGGGAAGCTGTGCCTGTGTGGGGATAGTTGGTAT ATAGGAATTTTCCCACTTACTTTTGCTGTCAACATAAAATATCTGTAAAA AATAAAAGTCAGTTAAAAAAAAGAAGAGGAGGTTGTTAATATCTCACAAG GCCCAACATCAGAGAGTTGGCATCAACTCTCTGAAGTATTCCCTGAACCC TGTTTTCCCTTCCTCCTGGCAGAAGAATTCTACTTCTTTATCTATCTTCC CATTGTGTATTATTTTTGCTTGTTTTACAGCTTTTTGTAGCATATTTAAT TACACTTGTTTGCAGGTCTCACTTTCTGTACTATGACCTGTCCAAGGGCA GAGGCAATGTCTTATTTTACTGATATTTTTACAGTAGTAGGAATACTACA TAGTAAAGTTCAATAAATATTTGTTGTGTGAATGTATGAAGAACATCTTA CGACTACTGTTTTATTATTTTTATTTTTCTGGGACAGAGTTTCACTCTGT TGCCCAGGCTGTAGTACAGTGGTGTAATCTCGTCTCACTATAACTTACCC TTCTGGGTTCAATCTAATCTCCTGCCTCGGCCTCCCAAGTAACTGGGATT ACAGGTGTCTCCCACCATGCCTGGTTAAATTTTTGTATCTTTAGTAGAGA CTGGATTTCACCATGTTGGCCAAGCTTGTCTTGAACTCCTGACCTCAGGT GTTCCGCCTGCCTTGGTCTCCCCAGGAGCTGGGATAAAACTACTGTTTAA AAATACAATTATAAAGGATTTTGGCTCAGAACCTGTTCTGCTTCAGGCTT TTGGGGAACCTGAAAACAGCTGCCTCCAAGTGACTTATTCCAGGGACAGT GGTCAGGATGTGAGGGCGTGAGCATTGAGGAAACGTCCTAGGAAATTGGG AACATATGAAAGTCCTAAACTAATAGTTTATCTATACTGAGCATCCTCAA GTGGTAACATATTACTCTAAGAGCTTTTGGAAAAGATTCCTCCTTGGAGA TAATAAAACCAAGTGCAGTGTGAAATCCAAGACCAGACTTCTGGGTGGTG GTTTAGGTAAATTGAGAAGATGTCATGGGGCCAATGGTGAGACAGTCCAT CCTACCAGAAGCCACCTCTGCCACCTCCCAAAGGCTGCCTAAAATGCTTT GGTAAGAGCTTATTACAAGGCATGGGGATAGATATACGTAGAATGTGTGA AATGTTTTCCTGGGAGGGATGACATTTTAAACTTTTATTTTCTACATTAC TGGGAGTCATATGTAGATTTTAAGAGGGGGCTAGGAAAAAAAAACTATGA AGACTTTGATGCTAAGAGTGGAAAGGAAAAGTTATCTAAGAGGTGATAGA GTACCAAAAATAGCTTTTCCCTTACTTCCCAAATTTGTCAGCATTTAACA GACAAAGTGAATATTCTTAAGCATCTAACTATTTTAACATTAGGGCATAC TTTTTACTTTAAGAAATTACATATTAATATGTGTAAAGTAGAAGCATTAT GAATGTAGAGAATTTATTCATTAGGGCTTTGATATTTACTACTGTCTGAT TTAGAGAAGTCACTTACCCTCTCTGGGCTTCGGTTTCATTCATTGATAAA ATAGGCACATGAGGTCAAGGGCAGAGCCTGTGGCTTACA	T T	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0003 a0000c0003t0003	a0000c0003t0003g0079 a0000c0003t0003g0079	1	360	0.0028	-9788	c.293 others(12): Show c.293+51_*7083del		SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	4/4						chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46183529	CTGCGGGG others(292): Show CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAG ACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAG GAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGG GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01258.hp1 HG02559.hp2 HG02896.hp2 others(4): Show HG01258.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 NA19030.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0039 a0005c0006t0010 a0004c0005t0039 a0005c0006t0010	a0004c0005t0039g0176 a0005c0006t0010g0019 a0005c0006t0010g0172 others(3): Show a0004c0005t0039g0176 a0005c0006t0010g0019 a0005c0006t0010g0172 a0005c0006t0010g0173 a0005c0006t0010g0174 a0005c0006t0010g0175	7	251	0.0279	-299	c.-95 others(12): Show c.-958-54_-714del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				714		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46183550	GCGGGGAG others(240): Show GCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCC TGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGACCA GCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGA CCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show HG01074.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 others(1): Show a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 a0007c0007t0014	a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 others(17): Show a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0026g0043 a0002c0002t0027g0045 a0007c0007t0014g0054 a0007c0007t0014g0055 a0007c0007t0014g0059	24	251	0.0956	-247	c.-95 others(12): Show c.-958-23_-735del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				735		chr21	TogoVar
SPDYE2_chr7_102546226_102568538	102551289	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00609.hp2 HG01070.hp1 HG01515.hp2 others(24): Show HG00609.hp2 HG01070.hp1 HG01515.hp2 HG01928.hp2 HG02056.hp1 HG02602.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp2 HG04204.hp2 NA18945.hp2 NA18948.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18985.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0011 a0015 a0020 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0010 a0011c0015 a0015c0021 a0020c0029 a0021c0030 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003 a0005c0004t0004 a0006c0010t0001 a0006c0010t0025 a0011c0015t0004 a0015c0021t0003 a0020c0029t0002 a0021c0030t0003 a0022c0031t0004	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0015g0023 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0003g0024 a0003c0003t0003g0025 a0005c0004t0004g0026 a0005c0004t0004g0036 a0006c0010t0001g0034 a0006c0010t0001g0035 a0006c0010t0025g0033 a0011c0015t0004g0018 a0011c0015t0004g0019 a0015c0021t0003g0037 a0020c0029t0002g0044 a0021c0030t0003g0029 a0022c0031t0004g0020	27	164	0.1646	0	c.-42 others(6): Show c.-422+1G>C		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	1/8						chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100310737	ACAACAGA others(1383): Show ACAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGCTTGGGATAAGAA AGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCACG TTGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGACTTTGAGGCTGC AGTGAGCTATGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAA CTCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAGCTCATGCCTGTA GTTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGGAG GAAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACTCCAGTCTGGGTG AGAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAA AAAAGAAGGGTCAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGA AGAATGGAGAAATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAG CACTTTGGGAAGCCAAGGCAGGCGGATCACGTGAGGCCAGGAGTTTGAGA CCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAAT TGAGCTGGGCATTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCT GAGGCAGGAGAATAACTGGAATCCGGGAGATAGATGTTGCAGTCAGCTGA GATTGCACCACTACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCG AAACAAAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAAGGAT ATGACGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGG AGTGGCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAG AAGCCAGCAGTCTGAGAGGCTGGGGAGGATGGAGAATGGTTTGGGGTTTG GGGTCGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGG TTTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCCT TGGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAG AGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCAGAGACGCTG TGTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCCC TGAGTACTACGAGGCCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAGA GAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACCA CACTTTTCCAATGGGAAAAATATGCCCCAGTGGGTGAGCTCTCCATGCGG GAGGACTCTGAAGTGATCACTCATGAGGGACACTTAGGAGT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02258.hp2 HG02293.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA18906.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0005 a0002c0006 a0003c0012 others(1): Show a0002c0005 a0002c0006 a0003c0012 a0009c0021	a0002c0005t0001 a0002c0006t0001 a0003c0012t0001 others(1): Show a0002c0005t0001 a0002c0006t0001 a0003c0012t0001 a0009c0021t0001	a0002c0005t0001g0005 a0002c0005t0001g0007 a0002c0005t0001g0141 others(3): Show a0002c0005t0001g0005 a0002c0005t0001g0007 a0002c0005t0001g0141 a0002c0006t0001g0005 a0003c0012t0001g0142 a0009c0021t0001g0005	16	344	0.0465	-1390	c.544 others(15): Show c.544+377_763+376del		SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPINT3_chr20_45507461_45520622	45512770	G G	A A	stop_gained stop_gained	HIGH	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0025 a0005c0007t0001g0025	1	454	0.0022	0	c.151 others(3): Show c.151C>T	p.Arg others(3): Show p.Arg51*	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding	2/2	165/474	151/270	51/89			chr20	TogoVar
STAG2_chrX_123956706_124107656	124061743	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01106.hp1 HG01167.hp1 HG01496.hp2 others(13): Show HG01106.hp1 HG01167.hp1 HG01496.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp2 HG02965.hp1 HG03098.hp1 HG03486.hp2 NA18949.hp2 NA18966.hp1 NA19081.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0055 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0267 a0001c0001t0001g0275	16	276	0.0580	1	c.153 others(7): Show c.1535-3dupT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	16/34					INFO_REALIGN_3_PRIME	chrX	TogoVar
SYNE2_chr14_63848004_64231433	63993818	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0009 a0011 a0012 a0013 a0014 a0017 a0018 a0021 a0022 a0023 a0025 a0031 a0032 a0034 a0039 a0040 a0048 a0050 a0051 a0053 a0054 a0055 a0057 a0058 a0060 a0061 a0062 a0065 a0066 a0067 a0069 a0070 a0071 a0072 a0073 a0074	a0001c0004 a0001c0005 a0001c0009 others(51): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0025 a0001c0054 a0002c0001 a0002c0058 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0004c0003 a0006c0007 a0009c0010 a0011c0017 a0011c0043 a0012c0008 a0013c0031 a0013c0032 a0014c0014 a0017c0012 a0018c0087 a0021c0024 a0021c0048 a0022c0016 a0023c0041 a0023c0042 a0025c0030 a0031c0081 a0032c0082 a0034c0027 a0039c0072 a0040c0026 a0048c0047 a0050c0051 a0051c0063 a0053c0062 a0054c0060 a0055c0061 a0057c0059 a0058c0052 a0060c0066 a0061c0049 a0062c0050 a0065c0046 a0066c0045 a0067c0029 a0069c0040 a0070c0039 a0071c0036 a0072c0037 a0073c0038 a0074c0033	a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 others(59): Show a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0009t0003 a0001c0018t0001 a0001c0025t0003 a0001c0054t0001 a0002c0001t0001 a0002c0001t0002 a0002c0058t0003 a0003c0002t0001 a0003c0002t0006 a0003c0002t0011 a0003c0015t0003 a0003c0034t0001 a0003c0035t0003 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0006c0007t0001 a0009c0010t0004 a0011c0017t0002 a0011c0043t0001 a0012c0008t0002 a0013c0031t0004 a0013c0032t0001 a0014c0014t0001 a0017c0012t0001 a0018c0087t0003 a0021c0024t0001 a0021c0048t0001 a0022c0016t0001 a0022c0016t0005 a0023c0041t0001 a0023c0042t0003 a0025c0030t0002 a0031c0081t0004 a0032c0082t0001 a0034c0027t0001 a0039c0072t0007 a0040c0026t0003 a0048c0047t0002 a0050c0051t0003 a0051c0063t0004 a0053c0062t0001 a0054c0060t0008 a0055c0061t0003 a0057c0059t0003 a0058c0052t0005 a0060c0066t0004 a0061c0049t0003 a0062c0050t0005 a0065c0046t0001 a0066c0045t0001 a0067c0029t0002 a0069c0040t0007 a0070c0039t0004 a0071c0036t0001 a0072c0037t0001 a0073c0038t0003 a0074c0033t0003	a0001c0004t0003g0071 a0001c0005t0001g0030 a0001c0005t0002g0044 others(75): Show a0001c0004t0003g0071 a0001c0005t0001g0030 a0001c0005t0002g0044 a0001c0005t0009g0062 a0001c0009t0003g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0025t0003g0084 a0001c0054t0001g0046 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0002g0033 a0002c0058t0003g0038 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0011g0009 a0003c0015t0003g0011 a0003c0015t0003g0012 a0003c0034t0001g0015 a0003c0035t0003g0070 a0004c0003t0002g0052 a0004c0003t0003g0051 a0004c0003t0003g0066 a0004c0003t0004g0050 a0006c0007t0001g0143 a0006c0007t0001g0144 a0006c0007t0001g0145 a0009c0010t0004g0079 a0009c0010t0004g0080 a0011c0017t0002g0025 a0011c0017t0002g0088 a0011c0043t0001g0089 a0012c0008t0002g0007 a0012c0008t0002g0064 a0012c0008t0002g0095 a0013c0031t0004g0102 a0013c0032t0001g0103 a0014c0014t0001g0098 a0014c0014t0001g0099 a0017c0012t0001g0073 a0017c0012t0001g0097 a0018c0087t0003g0077 a0021c0024t0001g0146 a0021c0048t0001g0042 a0022c0016t0001g0149 a0022c0016t0005g0148 a0023c0041t0001g0036 a0023c0042t0003g0069 a0025c0030t0002g0101 a0031c0081t0004g0041 a0032c0082t0001g0100 a0034c0027t0001g0083 a0039c0072t0007g0018 a0040c0026t0003g0074 a0048c0047t0002g0090 a0050c0051t0003g0047 a0051c0063t0004g0031 a0053c0062t0001g0072 a0054c0060t0008g0024 a0055c0061t0003g0034 a0057c0059t0003g0049 a0058c0052t0005g0053 a0060c0066t0004g0076 a0061c0049t0003g0108 a0062c0050t0005g0043 a0065c0046t0001g0114 a0066c0045t0001g0115 a0067c0029t0002g0086 a0069c0040t0007g0150 a0070c0039t0004g0067 a0071c0036t0001g0001 a0072c0037t0001g0013 a0073c0038t0003g0028 a0074c0033t0003g0075	78	150	0.5200	1	c.264 others(7): Show c.2647-3dupT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	21/115					INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64093374	G G	A A	stop_gained stop_gained	HIGH	HG00423.hp1 HG00741.hp1 HG01496.hp2 others(25): Show HG00423.hp1 HG00741.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02523.hp2 HG02622.hp2 HG02809.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03710.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18969.hp1 NA18970.hp2 NA18980.hp1 NA19007.hp1 NA19010.hp1 NA19065.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2	a0003 a0008 a0012 others(10): Show a0003 a0008 a0012 a0021 a0030 a0033 a0034 a0050 a0061 a0064 a0067 a0072 a0073	a0003c0002 a0003c0015 a0003c0034 others(16): Show a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0008c0077 a0008c0078 a0008c0079 a0012c0008 a0021c0024 a0021c0048 a0030c0090 a0033c0076 a0034c0027 a0050c0051 a0061c0049 a0064c0092 a0067c0029 a0072c0037 a0073c0038	a0003c0002t0001 a0003c0002t0006 a0003c0002t0011 others(18): Show a0003c0002t0001 a0003c0002t0006 a0003c0002t0011 a0003c0015t0003 a0003c0034t0001 a0003c0035t0003 a0008c0077t0001 a0008c0078t0001 a0008c0079t0003 a0012c0008t0002 a0021c0024t0001 a0021c0048t0001 a0030c0090t0001 a0033c0076t0002 a0034c0027t0001 a0050c0051t0003 a0061c0049t0003 a0064c0092t0004 a0067c0029t0002 a0072c0037t0001 a0073c0038t0003	a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 others(25): Show a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0011g0009 a0003c0015t0003g0011 a0003c0015t0003g0012 a0003c0034t0001g0015 a0003c0035t0003g0070 a0008c0077t0001g0059 a0008c0078t0001g0085 a0008c0079t0003g0087 a0012c0008t0002g0007 a0012c0008t0002g0064 a0012c0008t0002g0095 a0021c0024t0001g0146 a0021c0048t0001g0042 a0030c0090t0001g0002 a0033c0076t0002g0125 a0034c0027t0001g0083 a0050c0051t0003g0047 a0061c0049t0003g0108 a0064c0092t0004g0008 a0067c0029t0002g0086 a0072c0037t0001g0013 a0073c0038t0003g0028	28	150	0.1867	0	c.120 others(5): Show c.12002G>A	p.Trp others(5): Show p.Trp4001*	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	61/116	12193/21822	12002/20724	4001/6907			chr14	TogoVar
TAAR9_chr6_132533277_132544336	132538470	A A	T T	stop_gained stop_gained	HIGH	HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show HG00140.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18941.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18982.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp2 NA19058.hp1 NA19062.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000	74	430	0.1721	0	c.181 others(3): Show c.181A>T	p.Lys others(3): Show p.Lys61*	TAAR9	ENSG00000237110.3	transcript	ENST00000434551.3	protein_coding	1/1	194/1060	181/1047	61/348			chr6	TogoVar
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(270): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0020 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0008g0149 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0153 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0264 a0001c0003t0001g0012 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0044 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0081 a0001c0003t0001g0098 a0001c0005t0001g0092 a0001c0005t0001g0100 a0001c0005t0001g0101 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0148 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0035 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0002c0007t0001g0167 a0003c0008t0006g0138 a0003c0008t0006g0139 a0004c0009t0001g0106	274	310	0.8839	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0010c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0010c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0010c0020t0001g0222	89	322	0.2764	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21						chr8	TogoVar
TBCD_chr17_82747065_82950914	82797739	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0009 a0012 a0014 a0015 a0017 a0018 a0019 a0021	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0007 a0002c0011 a0002c0025 a0002c0040 a0006c0016 a0007c0048 a0009c0034 a0012c0020 a0014c0021 a0015c0022 a0017c0036 a0018c0039 a0019c0038 a0021c0046	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0006c0016t0001 a0007c0048t0017 a0009c0034t0001 a0012c0020t0003 a0014c0021t0009 a0015c0022t0005 a0017c0036t0003 a0018c0039t0010 a0019c0038t0005 a0021c0046t0011	a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 others(115): Show a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0213 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0029g0256 a0001c0002t0030g0244 a0001c0002t0040g0254 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0264 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0297 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0296 a0002c0003t0015g0303 a0002c0003t0015g0315 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0006t0005g0250 a0002c0006t0005g0283 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0278 a0002c0011t0003g0295 a0002c0025t0002g0131 a0002c0040t0003g0307 a0006c0016t0001g0257 a0006c0016t0001g0318 a0007c0048t0017g0174 a0009c0034t0001g0277 a0012c0020t0003g0207 a0014c0021t0009g0272 a0015c0022t0005g0284 a0017c0036t0003g0305 a0018c0039t0010g0080 a0019c0038t0005g0120 a0021c0046t0011g0233	118	318	0.3711	1	c.772 others(6): Show c.772-3dupT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TCP11X2_chrX_102455315_102476812	102463309	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG01891.hp2 HG02897.hp2 HG02965.hp1 others(1): Show HG01891.hp2 HG02897.hp2 HG02965.hp1 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 others(1): Show a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0098	4	137	0.0292	-1	c.745 others(4): Show c.745delG	p.Ala others(5): Show p.Ala249fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	7/10	796/1758	745/1509	249/502			chrX	TogoVar
TEKTIP1_chr19_3534174_3549030	3539216	C C	CCCCTCGG others(3): Show CCCCTCGGGGA	frameshift_variant frameshift_variant	HIGH	HG02257.hp2 HG02965.hp2 HG02970.hp1 others(2): Show HG02257.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0033 a0005c0005t0001g0025 a0005c0005t0001g0033	5	442	0.0113	10	c.46_ others(15): Show c.46_55dupGGGACCCTCG	p.Glu others(4): Show p.Glu19fs	TEKTIP1	ENSG00000183397.6	transcript	ENST00000329493.6	protein_coding	1/4	60/654	56/630	19/209		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX22_chr14_105393538_105418859	105399471	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02257.hp2 HG02965.hp1 others(2): Show HG02055.hp1 HG02257.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0004 a0002c0004t0001 a0002c0004t0004	a0002c0004t0001g0047 a0002c0004t0001g0173 a0002c0004t0001g0174 others(2): Show a0002c0004t0001g0047 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0004g0047	5	368	0.0136	1	c.132 others(4): Show c.132dupA	p.Leu others(4): Show p.Leu45fs	TEX22	ENSG00000226174.7	transcript	ENST00000451127.3	protein_coding	2/4	270/2616	133/453	45/150		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEX28_chrX_154266265_154300124	154271731	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	15	0.0667	-1	c.916 others(4): Show c.916delG	p.Glu others(5): Show p.Glu306fs	TEX28	ENSG00000278057.4	transcript	ENST00000617225.5	protein_coding	5/5	1099/1566	916/1233	306/410			chrX	TogoVar
TEX28_chrX_154266265_154300124	154272395	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	15	0.0667	-1	c.871 others(4): Show c.871delA	p.Ile others(5): Show p.Ile291fs	TEX28	ENSG00000278057.4	transcript	ENST00000617225.5	protein_coding	4/5	1054/1566	871/1233	291/410			chrX	TogoVar
TIGD6_chr5_149988118_150005654	149996157	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0004c0006 a0004c0007 others(2): Show a0004c0004 a0004c0006 a0004c0007 a0004c0013 a0006c0008	a0004c0004t0006 a0004c0004t0011 a0004c0004t0020 others(5): Show a0004c0004t0006 a0004c0004t0011 a0004c0004t0020 a0004c0006t0003 a0004c0006t0018 a0004c0007t0003 a0004c0013t0015 a0006c0008t0010	a0004c0004t0006g0008 a0004c0004t0006g0017 a0004c0004t0006g0058 others(8): Show a0004c0004t0006g0008 a0004c0004t0006g0017 a0004c0004t0006g0058 a0004c0004t0006g0070 a0004c0004t0011g0022 a0004c0004t0020g0083 a0004c0006t0003g0009 a0004c0006t0018g0056 a0004c0007t0003g0025 a0004c0013t0015g0044 a0006c0008t0010g0021	36	436	0.0826	-1	c.191 others(4): Show c.191delG	p.Gly others(4): Show p.Gly64fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	453/3493	191/1566	64/521			chr5	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0002c0015 a0002c0018 others(7): Show a0002c0002 a0002c0015 a0002c0018 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019 a0005c0010 a0010c0020	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0015t0002 a0002c0018t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023 a0005c0010t0002 a0010c0020t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 others(79): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0011g0016 a0002c0002t0019g0055 a0002c0002t0024g0089 a0002c0002t0027g0174 a0002c0015t0002g0100 a0002c0018t0002g0109 a0003c0005t0006g0022 a0003c0005t0006g0048 a0003c0005t0006g0062 a0003c0005t0006g0066 a0003c0005t0006g0067 a0003c0005t0006g0072 a0003c0005t0006g0092 a0003c0005t0006g0096 a0003c0005t0006g0107 a0003c0005t0006g0110 a0003c0005t0006g0114 a0003c0005t0007g0014 a0003c0005t0007g0065 a0003c0005t0007g0090 a0003c0005t0007g0102 a0003c0005t0007g0113 a0003c0009t0004g0013 a0003c0009t0004g0056 a0003c0009t0004g0057 a0003c0009t0004g0058 a0003c0009t0004g0104 a0003c0009t0004g0105 a0003c0009t0015g0091 a0003c0016t0006g0101 a0003c0017t0004g0050 a0003c0019t0023g0063 a0005c0010t0002g0017 a0005c0010t0002g0064 a0005c0010t0002g0079 a0005c0010t0002g0082 a0005c0010t0002g0099 a0005c0010t0002g0108 a0010c0020t0002g0085	100	394	0.2538	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418			chr4	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	CTGGGG CTGGGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0006 a0001c0009 others(21): Show a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0034 a0001c0038 a0001c0039 a0001c0047 a0001c0054 a0001c0072 a0001c0077 a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0062 a0003c0029 a0004c0044 a0004c0060 a0004c0066 a0005c0025	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(22): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0013t0001 a0001c0015t0001 a0001c0034t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0054t0001 a0001c0072t0001 a0001c0077t0001 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0062t0001 a0003c0029t0001 a0004c0044t0001 a0004c0060t0001 a0004c0066t0001 a0005c0025t0001	a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 others(118): Show a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 a0001c0005t0001g0153 a0001c0005t0001g0203 a0001c0005t0001g0233 a0001c0005t0001g0250 a0001c0005t0001g0256 a0001c0005t0001g0279 a0001c0005t0002g0007 a0001c0005t0002g0320 a0001c0005t0002g0336 a0001c0005t0002g0340 a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0006t0001g0101 a0001c0006t0001g0102 a0001c0006t0001g0115 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0128 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0134 a0001c0006t0001g0145 a0001c0006t0001g0164 a0001c0006t0001g0302 a0001c0009t0001g0001 a0001c0009t0001g0031 a0001c0009t0001g0048 a0001c0009t0001g0052 a0001c0009t0001g0063 a0001c0013t0001g0060 a0001c0015t0001g0166 a0001c0015t0001g0168 a0001c0015t0001g0169 a0001c0015t0001g0170 a0001c0015t0001g0173 a0001c0015t0001g0174 a0001c0034t0001g0167 a0001c0034t0001g0171 a0001c0038t0001g0308 a0001c0039t0001g0267 a0001c0047t0001g0068 a0001c0054t0001g0129 a0001c0072t0001g0023 a0001c0077t0001g0175 a0002c0001t0001g0003 a0002c0001t0001g0008 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0165 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0226 a0002c0001t0001g0238 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0257 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0001g0271 a0002c0001t0001g0275 a0002c0001t0001g0293 a0002c0001t0001g0298 a0002c0001t0001g0301 a0002c0012t0001g0184 a0002c0012t0001g0185 a0002c0012t0001g0201 a0002c0012t0001g0213 a0002c0014t0001g0004 a0002c0014t0001g0290 a0002c0016t0001g0036 a0002c0019t0001g0035 a0002c0019t0001g0037 a0002c0019t0001g0061 a0002c0019t0001g0062 a0002c0061t0001g0281 a0002c0062t0001g0190 a0003c0029t0001g0125 a0003c0029t0001g0126 a0004c0044t0001g0313 a0004c0060t0001g0263 a0004c0066t0001g0080 a0005c0025t0001g0025 a0005c0025t0001g0026 a0005c0025t0001g0094	125	348	0.3592	-5	c.184 others(18): Show c.1842-6_1842-2delCCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17						chr22	TogoVar
TNN_chr1_175062833_175153075	175077421	G G	T T	start_lost start_lost	HIGH	HG02965.hp1 HG03041.hp2 HG02965.hp1 HG03041.hp2	a0029 a0030 a0029 a0030	a0029c0096 a0030c0095 a0029c0096 a0030c0095	a0029c0096t0001 a0030c0095t0003 a0029c0096t0001 a0030c0095t0003	a0029c0096t0001g0308 a0030c0095t0003g0307 a0029c0096t0001g0308 a0030c0095t0003g0307	2	374	0.0054	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	2/19	141/5042	3/3900	1/1299			chr1	TogoVar
TRIM17_chr1_228402935_228421861	228415115	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00673.hp2 HG01109.hp2 HG01261.hp2 others(14): Show HG00673.hp2 HG01109.hp2 HG01261.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 others(1): Show a0001c0002 a0001c0005 a0001c0009 a0001c0022	a0001c0002t0002 a0001c0005t0002 a0001c0009t0002 others(1): Show a0001c0002t0002 a0001c0005t0002 a0001c0009t0002 a0001c0022t0004	a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0061 others(6): Show a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0005t0002g0017 a0001c0009t0002g0064 a0001c0009t0002g0065 a0001c0009t0002g0066 a0001c0022t0004g0063	17	412	0.0413	0	c.-41 others(5): Show c.-41-2A>G		TRIM17	ENSG00000162931.12	transcript	ENST00000366698.7	protein_coding	1/6						chr1	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6						chr11	TogoVar
TSPAN32_chr11_2297013_2323204	2302165	C C	T T	stop_gained stop_gained	HIGH	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0309 a0006c0013t0001g0309	1	412	0.0024	0	c.16C others(2): Show c.16C>T	p.Arg others(2): Show p.Arg6*	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	1/10	153/1380	16/963	6/320			chr11	TogoVar
TTC14_chr3_180597163_180616130	180603109	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp2 HG02145.hp2 HG02723.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02723.hp1 HG02965.hp1 HG03579.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0006t0001g0013 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0006t0001g0013	6	334	0.0180	1	c.287 others(6): Show c.287-3dupT		TTC14	ENSG00000163728.11	transcript	ENST00000296015.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5						chr2	TogoVar
TXK_chr4_48061393_48139250	48104957	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	362	0.0028	0	c.447 others(5): Show c.447-2A>C		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	5/14						chr4	TogoVar
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0011 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0011c0015t0001g0008 a0012c0013t0004g0001	121	286	0.4231	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(209): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0011c0015t0001g0008 a0012c0013t0004g0001	212	286	0.7413	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668			chr7	TogoVar
UBR2_chr6_42559029_42698505	42644198	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00741.hp1 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp1 NA18949.hp1 NA18956.hp1 NA18962.hp2 NA18968.hp2 NA18983.hp1 NA19002.hp1 NA19030.hp1 NA19055.hp1 NA19079.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 others(21): Show a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0019g0172	24	342	0.0702	1	c.209 others(7): Show c.2098-2dupA		UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr6	TogoVar
UGT2B10_chr4_68810994_68837023	68822269	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show HG00609.hp2 HG01167.hp2 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18971.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0015 a0016 a0017	a0001c0001 a0001c0023 a0004c0006 others(4): Show a0001c0001 a0001c0023 a0004c0006 a0005c0007 a0015c0019 a0016c0017 a0017c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0023t0001 a0004c0006t0002 a0005c0007t0007 a0015c0019t0001 a0016c0017t0005 a0017c0015t0005	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0005g0014 a0001c0001t0005g0059 a0001c0001t0012g0058 a0001c0023t0001g0007 a0004c0006t0002g0033 a0005c0007t0007g0052 a0005c0007t0007g0053 a0005c0007t0007g0054 a0015c0019t0001g0013 a0016c0017t0005g0014 a0017c0015t0005g0055	63	461	0.1367	0	c.868 others(5): Show c.868-2A>C		UGT2B10	ENSG00000109181.12	transcript	ENST00000265403.12	protein_coding	2/5						chr4	TogoVar
USP17L2_chr8_12131435_12143849	12135283	ATAGCATA others(4731): Show ATAGCATAACCTTTTTAATGCTGGCCCTTGTTTCACAGGGAAAAGGCAAA AATGCAAAAATAAGCCGTGTGTCTCCTGGATTCTCTCATCGATTGTTCAT GGTCTGAGATGTTCCCTCCATTTCCAGTTATGCATTGTATGGTGGAATTG CAGTTAGTACATTTGGTGCAAAAATTGTAATGCTGACGAAAGTGGACATG TTCCCTGAACTAAGAGGGACAGCATTTGGGTGTGTCTTCAGGCTCTCTGG CTTACCAGGAATGAAGATCCTGGCTCTAGGGATTTTCCCAAAATGTCTTA GACAGTAAGGAACAGGGCAGAATTGAGGCCCGGCGCCAAGGCCTCTGGGT GTAAAGAAACAGCCCTGGCTTCAAGGGCTCATGAAATTCGGATGATTTTA AGGAGGATGATGGAATGAGAGGACTGTGACCTTTGGCCCCGTTTCTTTCC CTTGTCTTTTCATGGGCCAGGTGTGCTCCATCAGAAGGCTTCGTGCGCCT GATGTAAAGTGTCCTGGGGGAAGAAAGGAGCACTGCTTAGAAAGATGCTC CACAGGGAGAAAGAAGCCACCATTTTCAGGAGAATGATCCCCAGAAGCAT GAGCAATGCAGATGTCGTGGCTTCACACAAGACGTCGGAGGGTCTTATTC CTGCAGCCGGGACCTGGGCATCGGTGTGCTTTCATGTTCCTAACTGATTT TGAGGGGAGCCCAATCGATAACCTGTCTGCGAGTCATGCTCATCACACTG TAGTTTTCACACACGTCACACGGAGACCCTGTTCGTATGCACATTTGGGT GCTTGAGCAGGGTTGCGCCCAAGATTCTGTGGTTCTACGGAGCCCTGAGT GGTGCCCTGGGCAGCTTTCCTCTGGGGTTGGTCAACTTTGATCACTGCAC CTAACGAGAAAGGGACCATGAAATCTAATCAGCAAATACAGACAAGCAAG GGGCCATTTCCCACAATCATTTCCACGGAAACACCACGTCGGATACGTAA GTCTGATTGCAGGACAGGGACTGTGCTTCAGAGATGCAGCTTTCGCAGCT GGACGAATGACCCGGAATCTCCCCAAATGCCATTTGTAAGCACACCAAAT GAGGTTTATTTCAGGGCTTTCTGAATTTATTTCAGTTGAATACACACACT CCTGTGTTTGATTTCCTTTATTATCAATACGACTTATTTCCAAATGACTG ACATGCCAGTGGGAAAATTTTCCATTTCGACTCATTGGAATTGGACATCG TGAAACAGGCAAGTCGGTCTGTCTGTTTCCGGCGTTATGTGGGTTCCAGC AAGAGCACAAGTCCCAGGGCGCCTGAGGTCCATTCAGAAACCAATGTAAA AACGGTGAGCCAGGGTAAGAAAGAAGAGCACCGTTCCTATCTTCTAAATG CATTCCAGTTTCCACTATTCAAGGTGGCGAGAATGATCCATGGATGTGCC ACATGAGCAAAATTTCACCTTCTCGTGCCGCCCAACAACTGACGAATGAA ACACACCCCAAGAGAAAATAGGAAACCGAGTCCCCTGCAATAACCTCACA CTCAAACCTACACGTCAGTAGGTCATATTCAGAAATACACAGTGAATGTC ATCTACCATGAACACAAACACACAGACAGTCTCTCCAGAGGTTCGGAAGA CTCACGACCCCAAAACTTGATGTTTCCCATGTGTGGGCTCATCCTGAGAT GCAGCCATCACTATCCAGTTGTCCCTGTTGTAGAGACAGAAACTTGGACT CCTCATTACTTTATGTAGGATTGACGGTGTTCGTGTTTGTGTGTGTGTGT GTGTTTGCGTGCGCGCTTGTGGGTGTATTTGTGCGTGTGTGTGTGTGCGT TCACCCCTACGTGTGGGTCGGCACTTCCACTGAGATCACTGGCACACAAG CAGAGCCCTCTTGCTGTGTTTGTTCTTCCCTTTGGATCTCCTGGTCCTCC CTTGCAGAGAAGCGAGGGTGCCAGTGTTCACGGACTCCTGATCTGTCCGG GTCGTCGAAGAGAGGTTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTT TTTCATCCCACACTTGTATTTCGATTGATGAATCACAAGTACGTTGGGAG GCAGGGTACCTTCGACTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTT TGCTCTTGGGGGAATTTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCT TTCCACCAAGCGCTCGTCCAACTCGGGTGCCTGGAGGCAGGGGTGGTCTC TCTTGAGCTCTCCTTGCGTTGCTCGCCTGTCTGTGTCTTCAGCGCCGAGG GCTCTTGGTTCCCTGCCTCTTGACACACTCTCACTGTGTCTTTCCCATTC ACTCTTCTGGATGTAAAAGAGGACATAGGCCTGTTGACTCAGGACAGAAG TGATGCTACAGGCAGTGACCTTGGCATCATCCATTTTATACCACTGGCCT TCTTGAGCTTTGACATAAGAGAAGTAATGTCCGTCGTGACAACTCCACCC AGCGTGGACCAGCACAGCATAGAGGACATAGACAAGAGGTCCTGTGTTCT GCTGAGACATGTATGGCTGCATGTCAAGGCACTCAGGATATTGCACATTC TTGGCAAGTTTGTTGCCTGTGACATCGGAGAATCTCTTCAAGACAAGGAT GAGGACCTTGGCAGAAGTGTGTAAAGTTAACGTCTTGGAGGCCGGCGCCC TCTGGAGACAAAGACCGCAATGATAGGCATTCTCTCCATTGAGTTCTTCG GGCTTCACCAACTGTTCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGAT ATCCAGGGCGATGTCCAGGTAAGGGTCAAAAGTGTCTGAAATCCCGTGGC AGTGGAGACACTTGATTTGAGATCTCCAGCAGCCTCCAAATATTTGGTGG ATGAGGGTGGTGTCCTTAGAGTGATGATCTACCTGCTTGTGGCCGGGAAG GCATGCCTTTTTCATGGCATCCACAGTGAACATGAGAAATTCATGGGCAT CTTCCTGCTTGCCTCTATGGAAGCCAGCAGCCAATGCCTGTGAGGGCTGG ATGACATGACCAGGACTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGT ACAGAGCATGCAGCACTTGGGACGCTGACATGTTTGAGAGTGCTCCCGGG ACAGCATGTAGTTGGCAAGGGGCGGTGTGTATGTCAGGCACTGCAGGGAA GCGTTCTCGTAGCAGGTATTTCCCATATTCTGGAGCCCAGCCCCCACCGC AGCAGGTCTCCTGCTACTCAGAGGAAGCTTCTTCCTGGGAGCAAGCTGTC TTGCCACAGGAGCCAAATCATCACAGAGGTCGACACGGGCCTCAGATGAG AGTGGTGACTTCTCAGGGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGC ATCTGGCCGAGAAGATGTGAGTTTTGAAAAGTGGTTGAACTGCCACTCAC CTCCCAAGTAGAGTGAGTCGTCCTCCATGTCGCCCGCAACAAGGATCACA AGGTTTTTCTGCTGGGACTGCAGGTTGCAGCAAGACGCTATCTCTTCCAA GAGAGTCTTCAAATGACGAGCTCTCTGGCCGCATCAGCCCTTATATAACT CACCCCCACCAACCGCGAACACCCCACCCACCCATCAGGTGTGCGATAAA CCAATCAAATATCAGCACTCAATTAAGGAATGAGTCACAGGGTGTGTCCC CTTGCATCGCTGGGAATTCAACAGACACAGCCCACATCATGACTTCTAGA ACACCTGAATCAAATTACTCCTCAGGGTGATAGGCACATATAATATGAGT GTAACCGGGTTGGGACAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAG AATGTCAGGGAAGAAATCTTTACCTATGAAACCGTGTGTGTATCTCTCTG TGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGCTTGTGCT GGGATGAACTTCCAAGTATGTACTTTTGGCAGCTACCGTCATCCTCTCAT CGACGGAAGGACAAGAAGTCTGAAGTGCGCTTTCTGACCTGAGAATAGTC AATGAAGTATAGTATTTAGCACAGCGTATTTTCTTCCTTAATAATAAAGG AGATATCCGTGGCATCAAACAGACCTTCCAGGGATAACCTTTCCACGTTC AGCCTATTGACTCTCTATCCGAGTGAAATTACTGGCCAGTGGAGAACAAG ACAAGTCTTTGCATGAAATGCTCTTGTGGAAGCTAGGCTGCCAAATAATA AAGCATCAAATGGTAGAAACATGCACTGAAGTTTGAAGAGTTACTCAGTG CACAAAGTAGGCTGTGAAAGACTTTGGGGAAATCATGCAATCACCGAGAG ACTAATTGATGACATTCCCCAAATTTATGTGTGCCAGAAAAGAGAGATGG TCCTGACATTGTATAGTGAGTGGTTTCGGACGTGCGGCGGCAGTTTAAGA AAACTTGAAACAAAAAACTTGAGAAATCCAAAGGTATCCCAACTATAAGC TTTTGTTTATTAAAGAACTGATGAAAATAAAAACAACGTATCTCACAGCA TGGGTGATACTATTTCCATACTTACGTGATAATGGATCAACATTTCATAG AGATGAAATAAAAAGTTCTAATTTTGACAAAAGCAAACAAGGAAAATTAT ACCGTAGAAAAGCCCGGGTGACGGGAGTGAGGCCCTGTCTGAAGAAGAAA ACATCGGAGACGTTTAAAAGCAGTGAGTGAAACAGAGGG	A A	transcript_ablation transcript_ablation	HIGH	HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show HG02109.hp1 HG02145.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 NA18747.hp2 NA18966.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	16	195	0.0821	-4738	c.-12 others(11): Show c.-1261_*1884del	p.0? p.0?	USP17L2	ENSG00000223443.3	transcript	ENST00000333796.4	protein_coding	1/1						chr8	TogoVar
USP29_chr19_57114985_57136926	57131414	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.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 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.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 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.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(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0023 a0001c0028 a0002c0002 a0002c0026 a0003c0004 a0005c0010 a0006c0008 a0007c0009 a0008c0012 a0009c0011 a0010c0027 a0011c0025 a0012c0016 a0013c0015 a0014c0018 a0015c0020 a0016c0022 a0017c0017 a0019c0024 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0005t0001 a0001c0007t0004 a0001c0019t0001 a0001c0021t0008 a0001c0023t0004 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0026t0002 a0003c0004t0003 a0003c0004t0006 a0005c0010t0001 a0006c0008t0002 a0007c0009t0001 a0008c0012t0003 a0009c0011t0003 a0010c0027t0004 a0011c0025t0001 a0012c0016t0002 a0013c0015t0003 a0014c0018t0012 a0015c0020t0001 a0016c0022t0001 a0017c0017t0002 a0019c0024t0001 a0020c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0013g0002 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0016 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0004g0008 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0023 a0001c0003t0004g0029 a0001c0003t0004g0055 a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0147 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0179 a0001c0003t0004g0200 a0001c0003t0005g0024 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0067 a0001c0003t0005g0068 a0001c0003t0005g0075 a0001c0003t0007g0018 a0001c0003t0007g0069 a0001c0003t0008g0045 a0001c0003t0008g0099 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0013 a0001c0005t0001g0021 a0001c0007t0004g0029 a0001c0007t0004g0148 a0001c0019t0001g0012 a0001c0021t0008g0100 a0001c0023t0004g0017 a0001c0028t0001g0021 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0175 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0009g0011 a0002c0002t0009g0031 a0002c0002t0010g0058 a0002c0002t0011g0162 a0002c0026t0002g0180 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0025 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0076 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0006g0003 a0003c0004t0006g0009 a0003c0004t0006g0010 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0020 a0006c0008t0002g0066 a0006c0008t0002g0199 a0007c0009t0001g0026 a0008c0012t0003g0007 a0009c0011t0003g0041 a0010c0027t0004g0014 a0011c0025t0001g0027 a0012c0016t0002g0201 a0013c0015t0003g0007 a0014c0018t0012g0197 a0015c0020t0001g0004 a0016c0022t0001g0071 a0017c0017t0002g0176 a0019c0024t0001g0131 a0020c0013t0001g0001	407	416	0.9784	0	c.273 others(4): Show c.2739C>A	p.Tyr others(4): Show p.Tyr913*	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding	4/4	3251/3763	2739/2769	913/922			chr19	TogoVar
USP6_chr17_5111032_5179991	5125819	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp1 HG02965.hp1 NA19030.hp1 HG02145.hp1 HG02965.hp1 NA19030.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0002 a0010c0013t0002	a0010c0013t0002g0145 a0010c0013t0002g0147 a0010c0013t0002g0148 a0010c0013t0002g0145 a0010c0013t0002g0147 a0010c0013t0002g0148	3	362	0.0083	0	c.-59 others(6): Show c.-591-2A>T		USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	5/37						chr17	TogoVar
VCX3B_chrX_8459830_8471510	8464991	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0000 a0001 a0003 others(40): Show a0000 a0001 a0003 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0025 a0027 a0030 a0031 a0032 a0033 a0037 a0038 a0039 a0043 a0044 a0046 a0047 a0049 a0050 a0051 a0054 a0056 a0058 a0061 a0067 a0071 a0072 a0075 a0081	a0000c0083 a0001c0001 a0001c0088 others(48): Show a0000c0083 a0001c0001 a0001c0088 a0003c0003 a0003c0014 a0003c0061 a0005c0005 a0005c0010 a0005c0069 a0005c0089 a0006c0007 a0006c0036 a0007c0006 a0009c0009 a0011c0019 a0012c0012 a0013c0013 a0014c0020 a0014c0081 a0015c0015 a0016c0016 a0017c0017 a0018c0018 a0019c0023 a0021c0021 a0024c0025 a0025c0027 a0027c0030 a0030c0087 a0031c0101 a0032c0035 a0033c0037 a0037c0042 a0038c0049 a0039c0054 a0043c0048 a0044c0047 a0046c0046 a0047c0041 a0049c0039 a0050c0058 a0051c0059 a0054c0066 a0056c0065 a0058c0062 a0061c0073 a0067c0079 a0071c0090 a0072c0084 a0075c0092 a0081c0098	a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 others(61): Show a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0088t0001 a0003c0003t0003 a0003c0014t0003 a0003c0061t0003 a0005c0005t0003 a0005c0005t0006 a0005c0005t0007 a0005c0005t0008 a0005c0010t0003 a0005c0010t0032 a0005c0069t0003 a0005c0089t0027 a0006c0007t0012 a0006c0036t0002 a0007c0006t0003 a0007c0006t0009 a0009c0009t0007 a0009c0009t0024 a0011c0019t0008 a0012c0012t0003 a0013c0013t0003 a0014c0020t0016 a0014c0020t0036 a0014c0081t0001 a0015c0015t0006 a0016c0016t0005 a0017c0017t0003 a0017c0017t0007 a0018c0018t0014 a0019c0023t0006 a0021c0021t0001 a0024c0025t0005 a0025c0027t0005 a0027c0030t0004 a0030c0087t0001 a0031c0101t0003 a0032c0035t0026 a0033c0037t0003 a0037c0042t0003 a0038c0049t0005 a0039c0054t0005 a0043c0048t0003 a0044c0047t0025 a0046c0046t0003 a0047c0041t0023 a0049c0039t0006 a0050c0058t0005 a0051c0059t0005 a0054c0066t0001 a0056c0065t0003 a0058c0062t0003 a0061c0073t0007 a0067c0079t0008 a0071c0090t0001 a0072c0084t0003 a0075c0092t0003 a0081c0098t0001	a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 others(72): Show a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0008g0001 a0001c0001t0019g0042 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0037g0001 a0001c0088t0001g0001 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0014t0003g0005 a0003c0014t0003g0008 a0003c0061t0003g0004 a0005c0005t0003g0004 a0005c0005t0006g0005 a0005c0005t0007g0016 a0005c0005t0008g0028 a0005c0010t0003g0004 a0005c0010t0003g0041 a0005c0010t0032g0004 a0005c0069t0003g0038 a0005c0089t0027g0039 a0006c0007t0012g0013 a0006c0036t0002g0023 a0007c0006t0003g0005 a0007c0006t0009g0005 a0009c0009t0007g0008 a0009c0009t0024g0008 a0011c0019t0008g0001 a0012c0012t0003g0010 a0013c0013t0003g0004 a0013c0013t0003g0011 a0014c0020t0016g0001 a0014c0020t0036g0001 a0014c0081t0001g0001 a0015c0015t0006g0009 a0016c0016t0005g0005 a0017c0017t0003g0005 a0017c0017t0003g0032 a0017c0017t0007g0008 a0018c0018t0014g0005 a0019c0023t0006g0015 a0021c0021t0001g0001 a0021c0021t0001g0014 a0024c0025t0005g0017 a0025c0027t0005g0005 a0027c0030t0004g0024 a0027c0030t0004g0025 a0030c0087t0001g0001 a0031c0101t0003g0040 a0032c0035t0026g0034 a0033c0037t0003g0016 a0037c0042t0003g0009 a0038c0049t0005g0005 a0039c0054t0005g0005 a0043c0048t0003g0010 a0044c0047t0025g0031 a0046c0046t0003g0009 a0047c0041t0023g0033 a0049c0039t0006g0036 a0050c0058t0005g0005 a0051c0059t0005g0005 a0054c0066t0001g0027 a0056c0065t0003g0004 a0058c0062t0003g0004 a0061c0073t0007g0008 a0067c0079t0008g0001 a0071c0090t0001g0001 a0072c0084t0003g0011 a0075c0092t0003g0030 a0081c0098t0001g0001	137	271	0.5055	0	c.-14 others(6): Show c.-147+1G>A		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	1/2						chrX	TogoVar

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