Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
GOLM2_chr15_44283719_44420758	44332050	TAGC TAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp1 NA19063.hp2 NA18960.hp1 NA19063.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0128 a0003c0004t0002g0129	2	150	0.0133	-3	c.551 others(10): Show c.551_553delCAG	p.Ala others(6): Show p.Ala184del	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding	4/10	862/3974	551/1311	184/436	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOPC_chr6_117555269_117607511	117563254	TTAA TTAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02145.hp2 HG02896.hp1 others(4): Show HG01891.hp2 HG02145.hp2 HG02896.hp1 HG02897.hp1 HG03486.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0169 a0002c0002t0001g0185 a0002c0002t0001g0009 a0002c0002t0001g0169 a0002c0002t0001g0185	7	382	0.0183	-3	c.138 others(12): Show c.1386_1388delTTA	p.Tyr others(6): Show p.Tyr462del	GOPC	ENSG00000047932.14	transcript	ENST00000368498.7	protein_coding	9/9	1611/4597	1386/1389	462/462		chr6	TogoVar
GP1BA_chr17_4927277_4940023	4933822	AAGCCCGA others(32): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0002 a0008c0025t0002	a0008c0025t0002g0001 a0008c0025t0002g0001	1	424	0.0024	-39	c.123 others(48): Show c.1233_1271delAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCAC CCC	p.Glu others(13): Show p.Glu412_Pro424del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1328/2514	1233/1959	411/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GP1BA_chr17_4927277_4940023	4933822	AAGCCCGA others(110): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC ACCTCAGAGCCCGCCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0001 a0011c0011t0001g0001	2	424	0.0047	-117	c.123 others(9): Show c.1233_1349del	p.Glu others(13): Show p.Glu412_Pro450del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1328/2514	1233/1959	411/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GP1BA_chr17_4927277_4940023	4933876	GGAGCCCA others(32): Show GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(263): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0014	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014 a0001c0020 a0008c0024 a0010c0013 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 a0001c0004t0002 a0001c0014t0002 a0001c0020t0001 a0008c0024t0002 a0010c0013t0001 a0014c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0002 a0001c0003t0001g0001 a0001c0004t0002g0001 a0001c0014t0002g0001 a0001c0020t0001g0002 a0008c0024t0002g0001 a0010c0013t0001g0001 a0014c0018t0002g0001	266	424	0.6274	-39	c.131 others(48): Show c.1311_1349delAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCAC CCC	p.Glu others(13): Show p.Glu438_Pro450del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1406/2514	1311/1959	437/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GPR137C_chr14_52547836_52642713	52553246	CGCTGCAG others(14): Show CGCTGCAGCCTCAGGCGCCGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0174 a0008c0011t0002g0174	1	346	0.0029	-21	c.101 others(28): Show c.101_121delCTGCAGCCTCAGGCGCCGCGG	p.Ala others(11): Show p.Ala34_Ala40del	GPR137C	ENSG00000180998.12	transcript	ENST00000321662.11	protein_coding	1/7	413/4200	101/1290	34/429	INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR146_chr7_1039546_1064261	1058284	ACGGTCAT others(8): Show ACGGTCATCATCTCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG00735.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0236 a0008c0010t0001g0236	1	434	0.0023	-15	c.770 others(22): Show c.770_784delCGGTCATCATCTCGC	p.Thr others(13): Show p.Thr257_Ser261del	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding	2/2	907/1883	770/1002	257/333		chr7	TogoVar
GPR153_chr1_6242353_6266098	6249732	GGCGAGTC others(41): Show GGCGAGTCGCGGGCTCCCCGCGGGCCGCTATCCAGGGCCGAGGGCCGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp2 NA18995.hp1 NA19058.hp1 NA18946.hp2 NA18995.hp1 NA19058.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0146 a0006c0008t0001g0166 a0006c0008t0001g0171 a0006c0008t0001g0146 a0006c0008t0001g0166 a0006c0008t0001g0171	3	374	0.0080	-48	c.138 others(57): Show c.1388_1435delTGCGGCCCTCGGCCCTGGATAGCGGCCCGCGGGGAG CCCGCGACTCGC	p.Leu others(13): Show p.Leu463_Ser478del	GPR153	ENSG00000158292.7	transcript	ENST00000377893.3	protein_coding	6/6	1818/4198	1388/1830	463/609		chr1	TogoVar
GPR50_chrX_151171584_151186465	151179939	TCGTGGC TCGTGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0012 a0010c0010t0001g0012	1	356	0.0028	-6	c.357 others(13): Show c.357_362delCGTGGC	p.Val others(13): Show p.Val120_Ala121del	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	495/2020	357/1854	119/617		chrX	TogoVar
GPR50_chrX_151171584_151186465	151181085	CCACCACT others(5): Show CCACCACTGGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03831.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18942.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19077.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0007 a0008 a0009 a0012 a0014 a0015	a0002c0002 a0004c0004 a0005c0005 others(6): Show a0002c0002 a0004c0004 a0005c0005 a0007c0007 a0008c0008 a0009c0009 a0012c0011 a0014c0013 a0015c0015	a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 others(6): Show a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0007c0007t0001 a0008c0008t0001 a0009c0009t0003 a0012c0011t0001 a0014c0013t0001 a0015c0015t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(63): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0094 a0004c0004t0001g0002 a0004c0004t0001g0005 a0004c0004t0001g0007 a0004c0004t0001g0010 a0004c0004t0001g0012 a0004c0004t0001g0015 a0004c0004t0001g0020 a0004c0004t0001g0036 a0004c0004t0001g0043 a0004c0004t0001g0050 a0004c0004t0001g0053 a0004c0004t0001g0055 a0004c0004t0001g0061 a0004c0004t0001g0062 a0004c0004t0001g0068 a0004c0004t0001g0074 a0004c0004t0001g0078 a0004c0004t0001g0080 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0093 a0004c0004t0001g0097 a0005c0005t0001g0002 a0005c0005t0001g0005 a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0011 a0005c0005t0001g0020 a0005c0005t0001g0029 a0005c0005t0001g0051 a0007c0007t0001g0008 a0008c0008t0001g0002 a0008c0008t0001g0085 a0009c0009t0003g0098 a0012c0011t0001g0001 a0014c0013t0001g0042 a0015c0015t0001g0015	132	356	0.3708	-12	c.150 others(21): Show c.1505_1516delCCACTGGCCACA	p.Thr others(13): Show p.Thr502_His505del	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1643/2020	1505/1854	502/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRC5B_chr16_19851691_19889848	19861912	CCCCAAGC others(17): Show CCCCAAGCTGCCACTGGGTCTTTTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0026 a0005c0011t0026	a0005c0011t0026g0255 a0005c0011t0026g0255	1	408	0.0025	-24	c.106 others(33): Show c.1068_1091delAAAAAGACCCAGTGGCAGCTTGGG	p.Lys others(13): Show p.Lys357_Gly364del	GPRC5B	ENSG00000167191.12	transcript	ENST00000300571.7	protein_coding	3/4	1214/5144	1068/1212	356/403		chr16	TogoVar
GPRIN1_chr5_176590802_176615156	176599118	TCTCAAAG others(17): Show TCTCAAAGACCCAGGATCCTCCTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19059.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19083.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0002 a0002c0009 a0011c0008 others(1): Show a0002c0002 a0002c0009 a0011c0008 a0012c0010	a0002c0002t0001 a0002c0002t0011 a0002c0002t0015 others(3): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0015 a0002c0009t0001 a0011c0008t0001 a0012c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0006 others(39): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0011g0060 a0002c0002t0015g0092 a0002c0009t0001g0093 a0011c0008t0001g0080 a0012c0010t0001g0135	118	397	0.2972	-24	c.693 others(31): Show c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	p.Lys others(13): Show p.Lys232_Arg239del	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding	2/2	917/4234	693/3027	231/1008		chr5	TogoVar
GPSM2_chr1_108871985_108939545	108922543	ACTT ACTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG01099.hp1 others(96): Show HG00140.hp1 HG00280.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18983.hp2 NA18990.hp1 NA19001.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19075.hp1 NA19084.hp2 NA19085.hp1 NA20129.hp2 NA20905.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0008 a0009	a0002c0002 a0002c0005 a0002c0006 others(6): Show a0002c0002 a0002c0005 a0002c0006 a0002c0010 a0003c0003 a0004c0004 a0006c0008 a0008c0011 a0009c0013	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(31): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0043 a0002c0002t0045 a0002c0005t0008 a0002c0005t0014 a0002c0005t0051 a0002c0006t0010 a0002c0010t0032 a0003c0003t0003 a0003c0003t0021 a0003c0003t0047 a0003c0003t0048 a0003c0003t0049 a0004c0004t0004 a0004c0004t0013 a0004c0004t0022 a0004c0004t0031 a0004c0004t0033 a0004c0004t0034 a0006c0008t0018 a0006c0008t0044 a0008c0011t0006 a0009c0013t0050	a0002c0002t0002g0024 a0002c0002t0005g0012 a0002c0002t0005g0013 others(88): Show a0002c0002t0002g0024 a0002c0002t0005g0012 a0002c0002t0005g0013 a0002c0002t0005g0014 a0002c0002t0005g0202 a0002c0002t0005g0203 a0002c0002t0005g0204 a0002c0002t0006g0002 a0002c0002t0006g0023 a0002c0002t0006g0028 a0002c0002t0006g0031 a0002c0002t0006g0051 a0002c0002t0006g0052 a0002c0002t0006g0053 a0002c0002t0009g0033 a0002c0002t0009g0036 a0002c0002t0009g0038 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0011g0044 a0002c0002t0011g0045 a0002c0002t0011g0046 a0002c0002t0011g0048 a0002c0002t0017g0022 a0002c0002t0017g0026 a0002c0002t0017g0029 a0002c0002t0018g0016 a0002c0002t0019g0034 a0002c0002t0019g0035 a0002c0002t0019g0037 a0002c0002t0020g0003 a0002c0002t0020g0039 a0002c0002t0025g0002 a0002c0002t0026g0030 a0002c0002t0027g0027 a0002c0002t0043g0047 a0002c0002t0045g0019 a0002c0005t0008g0005 a0002c0005t0008g0054 a0002c0005t0008g0055 a0002c0005t0008g0058 a0002c0005t0008g0059 a0002c0005t0014g0060 a0002c0005t0014g0061 a0002c0005t0014g0062 a0002c0005t0051g0057 a0002c0006t0010g0004 a0002c0006t0010g0020 a0002c0006t0010g0021 a0002c0006t0010g0043 a0002c0010t0032g0205 a0003c0003t0003g0230 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0236 a0003c0003t0003g0237 a0003c0003t0003g0238 a0003c0003t0003g0239 a0003c0003t0003g0240 a0003c0003t0003g0241 a0003c0003t0003g0242 a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0003t0003g0245 a0003c0003t0021g0227 a0003c0003t0021g0228 a0003c0003t0021g0229 a0003c0003t0047g0234 a0003c0003t0048g0235 a0003c0003t0049g0231 a0004c0004t0004g0011 a0004c0004t0004g0193 a0004c0004t0004g0194 a0004c0004t0004g0195 a0004c0004t0004g0196 a0004c0004t0004g0197 a0004c0004t0004g0198 a0004c0004t0004g0199 a0004c0004t0004g0200 a0004c0004t0013g0001 a0004c0004t0013g0011 a0004c0004t0022g0063 a0004c0004t0022g0064 a0004c0004t0031g0201 a0004c0004t0033g0042 a0004c0004t0034g0032 a0006c0008t0018g0018 a0006c0008t0018g0218 a0006c0008t0044g0017 a0008c0011t0006g0025 a0009c0013t0050g0056	99	260	0.3808	-3	c.157 others(12): Show c.1572_1574delTTC	p.Ser others(6): Show p.Ser525del	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	13/15	2064/7152	1572/2055	524/684	INFO_REALIGN_3_PRIME	chr1	TogoVar
GPX1_chr3_49352176_49363353	49358240	GGCC GGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18963.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18991.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006	a0002c0002t0001g0007 a0002c0002t0002g0002 a0002c0002t0006g0014 a0002c0002t0001g0007 a0002c0002t0002g0002 a0002c0002t0006g0014	78	326	0.2393	-3	c.36_ others(8): Show c.36_38delGGC	p.Ala others(5): Show p.Ala13del	GPX1	ENSG00000233276.9	transcript	ENST00000419783.3	protein_coding	1/2	113/899	36/612	12/203		chr3	TogoVar
GPX1_chr3_49352176_49363353	49358240	GGCCGCC GGCCGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(197): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0004c0004 others(1): Show a0001c0001 a0001c0006 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0003g0004 a0001c0001t0004g0008 a0001c0006t0001g0011 a0004c0004t0001g0005 a0005c0005t0001g0009	200	326	0.6135	-6	c.33_ others(11): Show c.33_38delGGCGGC	p.Ala others(11): Show p.Ala12_Ala13del	GPX1	ENSG00000233276.9	transcript	ENST00000419783.3	protein_coding	1/2	113/899	33/612	11/203		chr3	TogoVar
GRIN2C_chr17_74837023_74864885	74842534	ACTGTCT ACTGTCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02630.hp1 HG02723.hp2 HG02818.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0037 a0009c0012t0001g0119 a0009c0012t0001g0037 a0009c0012t0001g0119	3	360	0.0083	-6	c.359 others(15): Show c.3597_3602delAGACAG	p.Arg others(15): Show p.Arg1199_Asp1200del	GRIN2C	ENSG00000161509.14	transcript	ENST00000293190.10	protein_coding	13/13	3759/4271	3597/3702	1199/1233		chr17	TogoVar
GRIN3B_chr19_995419_1014732	1009551	GGCCCCCG others(20): Show GGCCCCCGCGGAGGCCCCACCACACTCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(72): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18955.hp2 NA18964.hp2 NA18970.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19067.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0003 a0010 a0011 others(17): Show a0003 a0010 a0011 a0018 a0023 a0029 a0033 a0034 a0036 a0048 a0055 a0058 a0070 a0073 a0088 a0089 a0090 a0091 a0092 a0103	a0003c0005 a0003c0025 a0003c0028 others(29): Show a0003c0005 a0003c0025 a0003c0028 a0003c0038 a0003c0039 a0003c0068 a0003c0069 a0003c0071 a0003c0073 a0010c0023 a0010c0054 a0010c0057 a0010c0142 a0011c0011 a0011c0059 a0018c0018 a0023c0033 a0029c0048 a0033c0053 a0034c0050 a0036c0041 a0048c0133 a0055c0098 a0058c0100 a0070c0139 a0073c0107 a0088c0075 a0089c0074 a0090c0067 a0091c0080 a0092c0060 a0103c0091	a0003c0005t0002 a0003c0025t0002 a0003c0028t0002 others(29): Show a0003c0005t0002 a0003c0025t0002 a0003c0028t0002 a0003c0038t0002 a0003c0039t0002 a0003c0068t0002 a0003c0069t0002 a0003c0071t0002 a0003c0073t0002 a0010c0023t0001 a0010c0054t0001 a0010c0057t0002 a0010c0142t0003 a0011c0011t0002 a0011c0059t0002 a0018c0018t0001 a0023c0033t0002 a0029c0048t0001 a0033c0053t0001 a0034c0050t0001 a0036c0041t0002 a0048c0133t0001 a0055c0098t0001 a0058c0100t0001 a0070c0139t0003 a0073c0107t0001 a0088c0075t0002 a0089c0074t0002 a0090c0067t0002 a0091c0080t0004 a0092c0060t0002 a0103c0091t0001	a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 others(45): Show a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 a0003c0005t0002g0067 a0003c0005t0002g0075 a0003c0005t0002g0087 a0003c0005t0002g0088 a0003c0005t0002g0092 a0003c0025t0002g0006 a0003c0025t0002g0095 a0003c0028t0002g0012 a0003c0028t0002g0094 a0003c0038t0002g0012 a0003c0039t0002g0046 a0003c0068t0002g0086 a0003c0069t0002g0017 a0003c0071t0002g0012 a0003c0073t0002g0089 a0010c0023t0001g0034 a0010c0023t0001g0144 a0010c0054t0001g0057 a0010c0057t0002g0068 a0010c0142t0003g0163 a0011c0011t0002g0011 a0011c0011t0002g0040 a0011c0011t0002g0041 a0011c0059t0002g0076 a0018c0018t0001g0031 a0018c0018t0001g0051 a0018c0018t0001g0113 a0018c0018t0001g0138 a0023c0033t0002g0029 a0029c0048t0001g0001 a0033c0053t0001g0014 a0034c0050t0001g0114 a0034c0050t0001g0115 a0036c0041t0002g0004 a0048c0133t0001g0136 a0055c0098t0001g0001 a0058c0100t0001g0169 a0070c0139t0003g0165 a0073c0107t0001g0142 a0088c0075t0002g0011 a0089c0074t0002g0011 a0090c0067t0002g0077 a0091c0080t0004g0085 a0092c0060t0002g0006 a0103c0091t0001g0194	75	446	0.1682	-27	c.308 others(36): Show c.3083_3109delCCCCCGCGGAGGCCCCACCACACTCTG	p.Ala others(15): Show p.Ala1028_Ser1036del	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	9/9	3102/3281	3083/3132	1028/1043	INFO_REALIGN_3_PRIME	chr19	TogoVar
GRM6_chr5_178973327_179000320	178994862	CGCGCCAG others(8): Show CGCGCCAGGCCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18967.hp1 NA18967.hp1	a0028 a0028	a0028c0071 a0028c0071	a0028c0071t0002 a0028c0071t0002	a0028c0071t0002g0417 a0028c0071t0002g0417	1	468	0.0021	-15	c.68_ others(20): Show c.68_82delAGGCGGGCCTGGCGC	p.Gln others(11): Show p.Gln23_Ala27del	GRM6	ENSG00000113262.16	transcript	ENST00000517717.3	protein_coding	2/11	143/6025	68/2634	23/877		chr5	TogoVar
GRWD1_chr19_48440983_48462022	48446744	TGAA TGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00735.hp2 others(39): Show HG00140.hp2 HG00280.hp1 HG00735.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG02155.hp2 HG02165.hp1 HG02451.hp2 HG02970.hp1 HG03471.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18992.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19055.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0012 others(3): Show a0003c0004t0001 a0003c0004t0003 a0003c0004t0012 a0003c0004t0022 a0003c0004t0023 a0003c0004t0024	a0003c0004t0001g0004 a0003c0004t0003g0004 a0003c0004t0003g0012 others(10): Show a0003c0004t0001g0004 a0003c0004t0003g0004 a0003c0004t0003g0012 a0003c0004t0003g0023 a0003c0004t0003g0059 a0003c0004t0003g0068 a0003c0004t0003g0078 a0003c0004t0003g0080 a0003c0004t0012g0004 a0003c0004t0012g0016 a0003c0004t0022g0004 a0003c0004t0023g0004 a0003c0004t0024g0012	42	434	0.0968	-3	c.378 others(10): Show c.378_380delAGA	p.Glu others(6): Show p.Glu127del	GRWD1	ENSG00000105447.13	transcript	ENST00000253237.10	protein_coding	3/7	401/5361	378/1341	126/446	INFO_REALIGN_3_PRIME	chr19	TogoVar
GSE1_chr16_85608322_85681200	85656376	GGAGCGC GGAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG01123.hp1 HG01257.hp1 others(29): Show HG00639.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01934.hp2 HG01943.hp1 HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18906.hp1 NA18947.hp2 NA19066.hp1 NA19079.hp2 NA20805.hp2 NA20905.hp1	a0002 a0007 a0017 others(4): Show a0002 a0007 a0017 a0018 a0020 a0029 a0030	a0002c0004 a0002c0005 a0002c0017 others(9): Show a0002c0004 a0002c0005 a0002c0017 a0002c0018 a0002c0045 a0002c0054 a0007c0012 a0017c0044 a0018c0043 a0020c0042 a0029c0024 a0030c0053	a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 others(19): Show a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0004t0025 a0002c0004t0045 a0002c0005t0001 a0002c0005t0007 a0002c0005t0008 a0002c0005t0044 a0002c0005t0063 a0002c0017t0001 a0002c0018t0004 a0002c0045t0047 a0002c0054t0032 a0007c0012t0021 a0007c0012t0034 a0017c0044t0002 a0018c0043t0003 a0020c0042t0008 a0029c0024t0023 a0030c0053t0001	a0002c0004t0002g0019 a0002c0004t0002g0124 a0002c0004t0003g0065 others(29): Show a0002c0004t0002g0019 a0002c0004t0002g0124 a0002c0004t0003g0065 a0002c0004t0003g0226 a0002c0004t0003g0276 a0002c0004t0004g0001 a0002c0004t0008g0015 a0002c0004t0008g0068 a0002c0004t0008g0093 a0002c0004t0025g0048 a0002c0004t0045g0252 a0002c0005t0001g0077 a0002c0005t0007g0080 a0002c0005t0007g0191 a0002c0005t0008g0085 a0002c0005t0008g0159 a0002c0005t0008g0160 a0002c0005t0044g0169 a0002c0005t0063g0208 a0002c0017t0001g0219 a0002c0017t0001g0237 a0002c0018t0004g0006 a0002c0018t0004g0266 a0002c0045t0047g0056 a0002c0054t0032g0084 a0007c0012t0021g0239 a0007c0012t0034g0214 a0017c0044t0002g0024 a0018c0043t0003g0098 a0020c0042t0008g0042 a0029c0024t0023g0055 a0030c0053t0001g0047	32	290	0.1103	-6	c.104 others(15): Show c.1041_1046delCGAGCG	p.Glu others(13): Show p.Glu348_Arg349del	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1111/7385	1041/3654	347/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85656376	GGAGCGCG others(5): Show GGAGCGCGAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03486.hp2 NA18952.hp1 HG03486.hp2 NA18952.hp1	a0005 a0005	a0005c0047 a0005c0048 a0005c0047 a0005c0048	a0005c0047t0065 a0005c0048t0003 a0005c0047t0065 a0005c0048t0003	a0005c0047t0065g0088 a0005c0048t0003g0050 a0005c0047t0065g0088 a0005c0048t0003g0050	2	290	0.0069	-12	c.103 others(21): Show c.1035_1046delCGAGCGCGAGCG	p.Glu others(13): Show p.Glu346_Arg349del	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1105/7385	1035/3654	345/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85656388	CGAGCGCG others(5): Show CGAGCGCGAGCGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0003 a0005c0046t0003	a0005c0046t0003g0034 a0005c0046t0003g0034	1	290	0.0035	-12	c.104 others(21): Show c.1041_1052delCGAGCGTGAGCG	p.Glu others(13): Show p.Glu348_Arg351del	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1111/7385	1041/3654	347/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	318566	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19078.hp2 NA19078.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0009 a0013c0016t0002g0009	1	155	0.0065	-3	c.219 others(10): Show c.219_221delGGA	p.Glu others(5): Show p.Glu74del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/10	230/1875	219/1551	73/516		chrX	TogoVar
GZF1_chr20_23357182_23378062	23365273	CGGAGGAG others(14): Show CGGAGGAGGAAGAGGAGGAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0006 a0006c0012t0006	a0006c0012t0006g0026 a0006c0012t0006g0026	1	428	0.0023	-21	c.900 others(28): Show c.900_920delAGAGGAGGAGGAGGAGGAGGA	p.Glu others(13): Show p.Glu300_Glu306del	GZF1	ENSG00000125812.16	transcript	ENST00000338121.10	protein_coding	2/6	977/4834	900/2136	300/711	INFO_REALIGN_3_PRIME	chr20	TogoVar
H2AB1_chrX_154879972_154890558	154885054	CGAG CGAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	1	318	0.0031	-3	c.15_ others(8): Show c.15_17delGAG	p.Arg others(4): Show p.Arg6del	H2AB1	ENSG00000274183.2	transcript	ENST00000620016.2	protein_coding	1/1	93/587	15/348	5/115	INFO_REALIGN_3_PRIME	chrX	TogoVar
HAGHL_chr16_722106_734715	727514	AGGTCAAG others(50): Show AGGTCAAGGTCATCCCCGTGCTCGAGGACAACTACATGTACCTGGTCATC GAGGAGCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18965.hp1 NA18965.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0012 a0007c0007t0012	a0007c0007t0012g0001 a0007c0007t0012g0001	1	398	0.0025	-57	c.6_6 others(61): Show c.6_62delGGTCAAGGTCATCCCCGTGCTCGAGGACAACTACATGTACC TGGTCATCGAGGAGCT	p.Lys others(16): Show p.Lys2_Leu21delinsAsn	HAGHL	ENSG00000103253.19	transcript	ENST00000389703.8	protein_coding	1/8	410/1512	6/849	2/282		chr16	TogoVar
HASPIN_chr17_3718903_3731699	3724096	TCGGCGAC others(29): Show TCGGCGACCCCTCGCAGTCCGACGATCCTGACGATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	414	0.0024	-36	c.164 others(43): Show c.164_199delGCGACCCCTCGCAGTCCGACGATCCTGACGATCCCG	p.Gly others(11): Show p.Gly55_Pro66del	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding	1/1	197/2797	164/2397	55/798	INFO_REALIGN_3_PRIME	chr17	TogoVar
HAVCR1_chr5_157024413_157064116	157052432	CTTG CTTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18951.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp1 NA19011.hp2 NA19030.hp2 NA19072.hp2 NA19240.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0011t0002	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0048 others(85): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0183 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0278 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0002g0016 a0002c0002t0007g0087 a0002c0011t0002g0002	91	352	0.2585	-3	c.599 others(10): Show c.599_601delCAA	p.Thr others(6): Show p.Thr200del	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	4/9	809/1623	599/1095	200/364		chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157052546	GTTGGAAC others(8): Show GTTGGAACAGTCGTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(198): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0009 a0010 a0013 a0014	a0001c0001 a0001c0016 a0003c0003 others(5): Show a0001c0001 a0001c0016 a0003c0003 a0007c0008 a0009c0009 a0010c0015 a0013c0014 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0016t0001 a0003c0003t0001 a0007c0008t0001 a0007c0008t0002 a0007c0008t0006 a0009c0009t0001 a0010c0015t0001 a0013c0014t0001 a0014c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0057 others(195): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0008g0162 a0001c0016t0001g0148 a0003c0003t0001g0008 a0003c0003t0001g0056 a0003c0003t0001g0105 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0120 a0003c0003t0001g0123 a0003c0003t0001g0140 a0003c0003t0001g0142 a0003c0003t0001g0144 a0003c0003t0001g0149 a0003c0003t0001g0159 a0003c0003t0001g0164 a0003c0003t0001g0230 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0315 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0323 a0003c0003t0001g0326 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0007c0008t0001g0337 a0007c0008t0001g0338 a0007c0008t0001g0340 a0007c0008t0001g0341 a0007c0008t0001g0342 a0007c0008t0002g0042 a0007c0008t0006g0044 a0009c0009t0001g0049 a0009c0009t0001g0335 a0009c0009t0001g0343 a0010c0015t0001g0192 a0013c0014t0001g0289 a0014c0013t0001g0139	201	352	0.5710	-15	c.473 others(22): Show c.473_487delTGACGACTGTTCCAA	p.Met others(13): Show p.Met158_Pro162del	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	4/9	695/1623	473/1095	158/364		chr5	TogoVar
HCN1_chr5_45249948_45701380	45695884	GCCGCCGC others(2): Show GCCGCCGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01433.hp2 HG02055.hp2 HG02257.hp2 others(2): Show HG01433.hp2 HG02055.hp2 HG02257.hp2 HG02897.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0014 a0002c0002t0008 a0002c0002t0014	a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 others(2): Show a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0014g0222 a0002c0002t0014g0223	5	226	0.0221	-9	c.201 others(16): Show c.201_209delTGGCGGCGG	p.Gly others(11): Show p.Gly68_Gly70del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	1/8	496/9933	201/2673	67/890		chr5	TogoVar
HECA_chr6_139130080_139185802	139135568	CCGGGCGC others(11): Show CCGGGCGCCGGAGGCGCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp1 HG02027.hp1 HG02300.hp2 others(2): Show HG02015.hp1 HG02027.hp1 HG02300.hp2 HG02559.hp2 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0004 a0002c0004t0001 a0002c0004t0004	a0002c0004t0001g0029 a0002c0004t0001g0159 a0002c0004t0004g0182 others(1): Show a0002c0004t0001g0029 a0002c0004t0001g0159 a0002c0004t0004g0182 a0002c0004t0004g0208	5	314	0.0159	-18	c.191 others(25): Show c.191_208delCGGGCGCCGGAGGCGCGG	p.Ala others(11): Show p.Ala64_Ala69del	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/4	508/5646	191/1632	64/543	INFO_REALIGN_3_PRIME	chr6	TogoVar
HEG1_chr3_124960710_125060997	125055810	GGCC GGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 HG00558.hp2 HG01081.hp2 others(24): Show HG00558.hp1 HG00558.hp2 HG01081.hp2 HG01433.hp1 HG01928.hp1 HG01981.hp2 HG02083.hp2 HG02258.hp1 HG02486.hp2 HG02809.hp2 HG02818.hp1 NA18940.hp2 NA18955.hp2 NA18970.hp1 NA18986.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19090.hp2	a0008 a0010 a0023 others(4): Show a0008 a0010 a0023 a0030 a0057 a0058 a0059	a0008c0012 a0008c0013 a0008c0060 others(9): Show a0008c0012 a0008c0013 a0008c0060 a0010c0016 a0010c0022 a0010c0056 a0023c0021 a0030c0058 a0030c0059 a0057c0061 a0058c0062 a0059c0057	a0008c0012t0013 a0008c0012t0017 a0008c0013t0004 others(20): Show a0008c0012t0013 a0008c0012t0017 a0008c0013t0004 a0008c0013t0006 a0008c0013t0014 a0008c0013t0058 a0008c0013t0124 a0008c0060t0139 a0010c0016t0005 a0010c0016t0038 a0010c0016t0141 a0010c0016t0142 a0010c0022t0004 a0010c0022t0008 a0010c0022t0062 a0010c0056t0143 a0023c0021t0006 a0023c0021t0054 a0030c0058t0057 a0030c0059t0058 a0057c0061t0035 a0058c0062t0014 a0059c0057t0128	a0008c0012t0013g0227 a0008c0012t0013g0228 a0008c0012t0017g0006 others(23): Show a0008c0012t0013g0227 a0008c0012t0013g0228 a0008c0012t0017g0006 a0008c0012t0017g0226 a0008c0013t0004g0212 a0008c0013t0006g0229 a0008c0013t0014g0213 a0008c0013t0058g0230 a0008c0013t0124g0234 a0008c0060t0139g0218 a0010c0016t0005g0222 a0010c0016t0038g0219 a0010c0016t0141g0224 a0010c0016t0142g0225 a0010c0022t0004g0232 a0010c0022t0008g0233 a0010c0022t0062g0231 a0010c0056t0143g0210 a0023c0021t0006g0216 a0023c0021t0006g0217 a0023c0021t0054g0215 a0030c0058t0057g0220 a0030c0059t0058g0221 a0057c0061t0035g0223 a0058c0062t0014g0214 a0059c0057t0128g0211	27	362	0.0746	-3	c.78_ others(8): Show c.78_80delGGC	p.Ala others(5): Show p.Ala27del	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	1/17	187/9195	78/4146	26/1381		chr3	TogoVar
HESX1_chr3_57192838_57204978	57199736	ATTGAAAC others(27): Show ATTGAAACAATTAAGCTGTGGCATACCTGATGAGC	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	336	0.0030	-34	c.149 others(44): Show c.149_157+25delGCTCATCAGGTATGCCACAGCTTAATTGTTTCAA	p.Ser others(17): Show p.Ser50_Gly53delinsArg	HESX1	ENSG00000163666.10	transcript	ENST00000295934.8	protein_coding	1/4		149/558	50/185		chr3	TogoVar
HLA-E_chr6_30484509_30499194	30490476	AAATACCT others(51): Show AAATACCTGGAGAAGGGGAAGGAGACGCTGCTTCACCTGGGTAAGAGGGT CCACAGGGC	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0011 a0006c0009t0001g0011	1	457	0.0022	-58	c.572 others(68): Show c.572_610+19delAATACCTGGAGAAGGGGAAGGAGACGCTGCTTCAC CTGGGTAAGAGGGTCCACAGGGC	p.Tyr others(13): Show p.Tyr192_Glu204del	HLA-E	ENSG00000204592.9	transcript	ENST00000376630.5	protein_coding	3/8	595/2548	572/1077	191/358		chr6	TogoVar
HMCN2_chr9_130260760_130439123	130265925	CGGCAGT CGGCAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(152): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(103): Show a0001 a0003 a0004 a0005 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121	a0001c0001 a0001c0013 a0001c0017 others(126): Show a0001c0001 a0001c0013 a0001c0017 a0001c0048 a0001c0083 a0001c0087 a0001c0096 a0003c0003 a0003c0009 a0003c0051 a0003c0072 a0004c0004 a0004c0016 a0004c0055 a0004c0088 a0005c0011 a0005c0015 a0005c0084 a0005c0085 a0007c0002 a0008c0007 a0008c0038 a0008c0042 a0010c0020 a0010c0221 a0012c0114 a0012c0115 a0013c0006 a0014c0039 a0014c0040 a0015c0008 a0016c0019 a0017c0075 a0017c0076 a0018c0065 a0018c0066 a0019c0010 a0020c0014 a0021c0012 a0022c0018 a0023c0126 a0023c0127 a0035c0118 a0036c0030 a0037c0117 a0038c0113 a0039c0112 a0040c0033 a0041c0034 a0042c0036 a0043c0035 a0044c0041 a0045c0037 a0046c0043 a0047c0050 a0048c0100 a0049c0101 a0050c0102 a0051c0107 a0052c0218 a0053c0103 a0054c0104 a0055c0105 a0056c0106 a0057c0054 a0058c0111 a0059c0057 a0060c0058 a0061c0059 a0062c0049 a0063c0219 a0064c0056 a0065c0053 a0066c0060 a0067c0063 a0068c0062 a0069c0061 a0070c0064 a0071c0095 a0072c0074 a0073c0078 a0074c0077 a0075c0110 a0076c0098 a0077c0215 a0078c0109 a0079c0070 a0080c0069 a0081c0071 a0082c0052 a0083c0068 a0084c0073 a0085c0097 a0086c0067 a0087c0080 a0088c0081 a0089c0116 a0090c0216 a0091c0082 a0092c0086 a0093c0089 a0094c0090 a0095c0217 a0096c0091 a0097c0092 a0098c0093 a0099c0079 a0100c0094 a0101c0099 a0102c0108 a0103c0044 a0104c0045 a0105c0046 a0106c0047 a0107c0032 a0108c0031 a0109c0119 a0110c0222 a0111c0122 a0112c0129 a0113c0120 a0114c0220 a0115c0125 a0116c0130 a0117c0128 a0118c0124 a0119c0121 a0120c0123 a0121c0029	a0001c0001t0001 a0001c0013t0001 a0001c0017t0002 others(126): Show a0001c0001t0001 a0001c0013t0001 a0001c0017t0002 a0001c0048t0001 a0001c0083t0002 a0001c0087t0001 a0001c0096t0001 a0003c0003t0001 a0003c0009t0001 a0003c0051t0001 a0003c0072t0001 a0004c0004t0001 a0004c0016t0001 a0004c0055t0001 a0004c0088t0001 a0005c0011t0001 a0005c0015t0001 a0005c0084t0001 a0005c0085t0001 a0007c0002t0001 a0008c0007t0001 a0008c0038t0001 a0008c0042t0001 a0010c0020t0001 a0010c0221t0001 a0012c0114t0001 a0012c0115t0001 a0013c0006t0001 a0014c0039t0001 a0014c0040t0001 a0015c0008t0001 a0016c0019t0001 a0017c0075t0001 a0017c0076t0001 a0018c0065t0001 a0018c0066t0001 a0019c0010t0001 a0020c0014t0001 a0021c0012t0001 a0022c0018t0001 a0023c0126t0001 a0023c0127t0001 a0035c0118t0001 a0036c0030t0001 a0037c0117t0001 a0038c0113t0001 a0039c0112t0001 a0040c0033t0001 a0041c0034t0001 a0042c0036t0001 a0043c0035t0001 a0044c0041t0001 a0045c0037t0001 a0046c0043t0001 a0047c0050t0001 a0048c0100t0001 a0049c0101t0001 a0050c0102t0001 a0051c0107t0001 a0052c0218t0001 a0053c0103t0001 a0054c0104t0001 a0055c0105t0001 a0056c0106t0001 a0057c0054t0001 a0058c0111t0001 a0059c0057t0001 a0060c0058t0001 a0061c0059t0001 a0062c0049t0001 a0063c0219t0001 a0064c0056t0001 a0065c0053t0001 a0066c0060t0001 a0067c0063t0001 a0068c0062t0001 a0069c0061t0003 a0070c0064t0001 a0071c0095t0001 a0072c0074t0001 a0073c0078t0001 a0074c0077t0001 a0075c0110t0001 a0076c0098t0001 a0077c0215t0001 a0078c0109t0001 a0079c0070t0001 a0080c0069t0001 a0081c0071t0001 a0082c0052t0001 a0083c0068t0001 a0084c0073t0003 a0085c0097t0001 a0086c0067t0001 a0087c0080t0001 a0088c0081t0001 a0089c0116t0001 a0090c0216t0001 a0091c0082t0001 a0092c0086t0001 a0093c0089t0001 a0094c0090t0001 a0095c0217t0001 a0096c0091t0001 a0097c0092t0001 a0098c0093t0001 a0099c0079t0001 a0100c0094t0001 a0101c0099t0001 a0102c0108t0001 a0103c0044t0001 a0104c0045t0001 a0105c0046t0001 a0106c0047t0001 a0107c0032t0001 a0108c0031t0001 a0109c0119t0001 a0110c0222t0001 a0111c0122t0001 a0112c0129t0001 a0113c0120t0001 a0114c0220t0001 a0115c0125t0001 a0116c0130t0001 a0117c0128t0001 a0118c0124t0001 a0119c0121t0001 a0120c0123t0001 a0121c0029t0001	a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0063 others(152): Show a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0013t0001g0093 a0001c0013t0001g0152 a0001c0017t0002g0137 a0001c0017t0002g0138 a0001c0048t0001g0100 a0001c0083t0002g0136 a0001c0087t0001g0122 a0001c0096t0001g0150 a0003c0003t0001g0054 a0003c0003t0001g0128 a0003c0003t0001g0151 a0003c0009t0001g0101 a0003c0009t0001g0123 a0003c0051t0001g0088 a0003c0072t0001g0092 a0004c0004t0001g0015 a0004c0004t0001g0065 a0004c0004t0001g0083 a0004c0016t0001g0042 a0004c0016t0001g0149 a0004c0055t0001g0091 a0004c0088t0001g0134 a0005c0011t0001g0124 a0005c0011t0001g0131 a0005c0015t0001g0085 a0005c0015t0001g0143 a0005c0084t0001g0148 a0005c0085t0001g0075 a0007c0002t0001g0067 a0007c0002t0001g0120 a0007c0002t0001g0140 a0007c0002t0001g0144 a0008c0007t0001g0119 a0008c0007t0001g0125 a0008c0038t0001g0117 a0008c0042t0001g0081 a0010c0020t0001g0096 a0010c0020t0001g0099 a0010c0221t0001g0257 a0012c0114t0001g0048 a0012c0115t0001g0049 a0013c0006t0001g0068 a0013c0006t0001g0074 a0014c0039t0001g0139 a0014c0040t0001g0066 a0015c0008t0001g0025 a0015c0008t0001g0073 a0016c0019t0001g0034 a0016c0019t0001g0061 a0017c0075t0001g0145 a0017c0076t0001g0005 a0018c0065t0001g0106 a0018c0066t0001g0029 a0019c0010t0001g0132 a0019c0010t0001g0135 a0020c0014t0001g0086 a0020c0014t0001g0107 a0021c0012t0001g0084 a0021c0012t0001g0112 a0022c0018t0001g0023 a0022c0018t0001g0038 a0023c0126t0001g0098 a0023c0127t0001g0097 a0035c0118t0001g0060 a0036c0030t0001g0076 a0037c0117t0001g0007 a0038c0113t0001g0077 a0039c0112t0001g0070 a0040c0033t0001g0014 a0041c0034t0001g0011 a0042c0036t0001g0087 a0043c0035t0001g0103 a0044c0041t0001g0094 a0045c0037t0001g0033 a0046c0043t0001g0006 a0047c0050t0001g0030 a0048c0100t0001g0026 a0049c0101t0001g0056 a0050c0102t0001g0039 a0051c0107t0001g0153 a0052c0218t0001g0046 a0053c0103t0001g0055 a0054c0104t0001g0051 a0055c0105t0001g0052 a0056c0106t0001g0069 a0057c0054t0001g0213 a0058c0111t0001g0078 a0059c0057t0001g0115 a0060c0058t0001g0113 a0061c0059t0001g0080 a0062c0049t0001g0004 a0063c0219t0001g0017 a0064c0056t0001g0050 a0065c0053t0001g0024 a0066c0060t0001g0116 a0067c0063t0001g0035 a0068c0062t0001g0057 a0069c0061t0003g0121 a0070c0064t0001g0009 a0071c0095t0001g0037 a0072c0074t0001g0013 a0073c0078t0001g0129 a0074c0077t0001g0141 a0075c0110t0001g0058 a0076c0098t0001g0036 a0077c0215t0001g0040 a0078c0109t0001g0027 a0079c0070t0001g0229 a0080c0069t0001g0059 a0081c0071t0001g0062 a0082c0052t0001g0089 a0083c0068t0001g0108 a0084c0073t0003g0082 a0085c0097t0001g0019 a0086c0067t0001g0104 a0087c0080t0001g0110 a0088c0081t0001g0032 a0089c0116t0001g0072 a0090c0216t0001g0047 a0091c0082t0001g0109 a0092c0086t0001g0130 a0093c0089t0001g0133 a0094c0090t0001g0146 a0095c0217t0001g0258 a0096c0091t0001g0008 a0097c0092t0001g0028 a0098c0093t0001g0041 a0099c0079t0001g0012 a0100c0094t0001g0016 a0101c0099t0001g0079 a0102c0108t0001g0071 a0103c0044t0001g0102 a0104c0045t0001g0031 a0105c0046t0001g0020 a0106c0047t0001g0118 a0107c0032t0001g0002 a0108c0031t0001g0114 a0109c0119t0001g0003 a0110c0222t0001g0010 a0111c0122t0001g0090 a0112c0129t0001g0044 a0113c0120t0001g0021 a0114c0220t0001g0045 a0115c0125t0001g0053 a0116c0130t0001g0095 a0117c0128t0001g0127 a0118c0124t0001g0022 a0119c0121t0001g0105 a0120c0123t0001g0147 a0121c0029t0001g0142	155	258	0.6008	-6	c.63_ others(11): Show c.63_68delAGTGGC	p.Val others(11): Show p.Val22_Ala23del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/98	182/15789	63/15240	21/5079	INFO_REALIGN_3_PRIME	chr9	TogoVar
HNF1A_chr12_120973543_121007512	120997538	CCTGCAGC others(20): Show CCTGCAGCCCGTCCAGTTCTCCCAGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0021 a0007c0016t0002g0021	2	410	0.0049	-27	c.138 others(36): Show c.1380_1406delGCCCGTCCAGTTCTCCCAGCCGCTGCA	p.Gln others(13): Show p.Gln460_Leu468del	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	7/10	1606/3442	1380/1896	460/631	INFO_REALIGN_3_PRIME	chr12	TogoVar
HNRNPCL2_chr1_13110488_13121854	13116317	GACA GACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG02897.hp1 HG03579.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0014 a0007c0010t0001g0014	3	425	0.0071	-3	c.81_ others(8): Show c.81_83delTGT	p.Val others(5): Show p.Val28del	HNRNPCL2	ENSG00000275774.3	transcript	ENST00000621994.3	protein_coding	2/2	326/1156	81/882	27/293		chr1	TogoVar
HNRNPM_chr19_8439975_8494114	8486200	GCATGGGC others(5): Show GCATGGGCCCTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0062 a0004c0013t0001g0062	1	360	0.0028	-12	c.178 others(21): Show c.1782_1793delTGCCATGGGCCC	p.Ala others(13): Show p.Ala595_Pro598del	HNRNPM	ENSG00000099783.13	transcript	ENST00000325495.9	protein_coding	14/16	1806/2477	1782/2193	594/730	INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMEZ_chr14_23267422_23291132	23275591	ACAT ACAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0013 others(3): Show a0001 a0006 a0013 a0014 a0019 a0021	a0001c0001 a0001c0008 a0001c0011 others(8): Show a0001c0001 a0001c0008 a0001c0011 a0001c0034 a0006c0005 a0006c0020 a0006c0031 a0013c0032 a0014c0029 a0019c0026 a0021c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0026 a0001c0001t0029 a0001c0001t0038 a0001c0001t0047 a0001c0008t0001 a0001c0008t0004 a0001c0008t0043 a0001c0011t0006 a0001c0034t0012 a0006c0005t0001 a0006c0005t0002 a0006c0005t0013 a0006c0005t0016 a0006c0005t0030 a0006c0005t0044 a0006c0020t0001 a0006c0031t0012 a0013c0032t0001 a0014c0029t0016 a0019c0026t0001 a0021c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0005g0017 a0001c0001t0005g0097 a0001c0001t0005g0127 a0001c0001t0005g0131 a0001c0001t0005g0140 a0001c0001t0026g0069 a0001c0001t0029g0089 a0001c0001t0038g0103 a0001c0001t0047g0156 a0001c0008t0001g0184 a0001c0008t0004g0043 a0001c0008t0004g0050 a0001c0008t0004g0172 a0001c0008t0004g0181 a0001c0008t0004g0186 a0001c0008t0004g0188 a0001c0008t0004g0191 a0001c0008t0004g0193 a0001c0008t0004g0200 a0001c0008t0043g0183 a0001c0011t0006g0119 a0001c0011t0006g0121 a0001c0011t0006g0123 a0001c0011t0006g0126 a0001c0011t0006g0134 a0001c0011t0006g0137 a0001c0011t0006g0139 a0001c0034t0012g0062 a0006c0005t0001g0083 a0006c0005t0001g0155 a0006c0005t0001g0164 a0006c0005t0001g0250 a0006c0005t0001g0270 a0006c0005t0002g0101 a0006c0005t0002g0180 a0006c0005t0002g0212 a0006c0005t0002g0258 a0006c0005t0002g0271 a0006c0005t0013g0197 a0006c0005t0013g0198 a0006c0005t0016g0067 a0006c0005t0030g0275 a0006c0005t0044g0052 a0006c0020t0001g0262 a0006c0031t0012g0192 a0013c0032t0001g0095 a0014c0029t0016g0068 a0019c0026t0001g0051 a0021c0024t0001g0092	150	394	0.3807	-3	c.163 others(12): Show c.1634_1636delATG	p.Asp others(6): Show p.Asp545del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1816/4986	1634/1653	545/550		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23275591	ACATCAT ACATCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01928.hp1 HG02074.hp2 HG02129.hp2 others(17): Show HG01928.hp1 HG02074.hp2 HG02129.hp2 HG03834.hp1 HG04204.hp2 NA18941.hp1 NA18947.hp2 NA18949.hp2 NA18954.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA19007.hp1 NA19009.hp2 NA19066.hp1 NA19081.hp2 NA19085.hp1	a0005 a0005	a0005c0007 a0005c0012 a0005c0017 a0005c0007 a0005c0012 a0005c0017	a0005c0007t0002 a0005c0007t0011 a0005c0007t0015 others(2): Show a0005c0007t0002 a0005c0007t0011 a0005c0007t0015 a0005c0012t0007 a0005c0017t0002	a0005c0007t0002g0044 a0005c0007t0002g0213 a0005c0007t0002g0234 others(10): Show a0005c0007t0002g0044 a0005c0007t0002g0213 a0005c0007t0002g0234 a0005c0007t0002g0242 a0005c0007t0002g0252 a0005c0007t0002g0268 a0005c0007t0011g0025 a0005c0007t0015g0046 a0005c0012t0007g0037 a0005c0012t0007g0038 a0005c0012t0007g0144 a0005c0012t0007g0147 a0005c0017t0002g0047	20	394	0.0508	-6	c.163 others(15): Show c.1631_1636delATGATG	p.Asp others(13): Show p.Asp544_Asp545del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1816/4986	1631/1653	544/550		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23275617	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00597.hp1 HG00609.hp2 others(98): Show HG00280.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18960.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19063.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0003 a0004 a0008 others(4): Show a0003 a0004 a0008 a0009 a0012 a0016 a0018	a0003c0003 a0003c0010 a0004c0004 others(7): Show a0003c0003 a0003c0010 a0004c0004 a0004c0014 a0004c0027 a0008c0013 a0009c0015 a0012c0018 a0016c0021 a0018c0022	a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 others(30): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 a0003c0003t0014 a0003c0003t0025 a0003c0003t0037 a0003c0003t0039 a0003c0003t0040 a0003c0003t0041 a0003c0010t0001 a0003c0010t0002 a0003c0010t0003 a0003c0010t0014 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0008 a0004c0004t0010 a0004c0004t0017 a0004c0004t0034 a0004c0004t0045 a0004c0004t0046 a0004c0014t0018 a0004c0014t0019 a0004c0027t0010 a0008c0013t0001 a0008c0013t0002 a0008c0013t0003 a0008c0013t0023 a0009c0015t0001 a0012c0018t0001 a0016c0021t0001 a0018c0022t0024	a0003c0003t0001g0024 a0003c0003t0001g0104 a0003c0003t0001g0105 others(83): Show a0003c0003t0001g0024 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0130 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0146 a0003c0003t0001g0154 a0003c0003t0001g0170 a0003c0003t0001g0176 a0003c0003t0001g0204 a0003c0003t0001g0206 a0003c0003t0001g0260 a0003c0003t0002g0036 a0003c0003t0002g0096 a0003c0003t0002g0098 a0003c0003t0002g0110 a0003c0003t0002g0111 a0003c0003t0002g0113 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0129 a0003c0003t0002g0142 a0003c0003t0002g0261 a0003c0003t0007g0135 a0003c0003t0014g0138 a0003c0003t0025g0099 a0003c0003t0037g0108 a0003c0003t0039g0128 a0003c0003t0040g0109 a0003c0003t0041g0118 a0003c0010t0001g0209 a0003c0010t0002g0045 a0003c0010t0002g0173 a0003c0010t0002g0249 a0003c0010t0002g0255 a0003c0010t0003g0273 a0003c0010t0014g0251 a0004c0004t0001g0166 a0004c0004t0001g0280 a0004c0004t0002g0007 a0004c0004t0002g0020 a0004c0004t0002g0049 a0004c0004t0002g0165 a0004c0004t0002g0168 a0004c0004t0002g0169 a0004c0004t0002g0281 a0004c0004t0003g0048 a0004c0004t0003g0159 a0004c0004t0003g0162 a0004c0004t0003g0174 a0004c0004t0003g0205 a0004c0004t0003g0272 a0004c0004t0003g0274 a0004c0004t0003g0278 a0004c0004t0008g0041 a0004c0004t0008g0042 a0004c0004t0008g0201 a0004c0004t0008g0208 a0004c0004t0008g0277 a0004c0004t0010g0203 a0004c0004t0017g0040 a0004c0004t0034g0160 a0004c0004t0045g0161 a0004c0004t0046g0175 a0004c0014t0018g0284 a0004c0014t0018g0285 a0004c0014t0019g0282 a0004c0014t0019g0283 a0004c0027t0010g0202 a0008c0013t0001g0077 a0008c0013t0002g0279 a0008c0013t0003g0056 a0008c0013t0003g0058 a0008c0013t0023g0076 a0009c0015t0001g0033 a0009c0015t0001g0088 a0012c0018t0001g0136 a0016c0021t0001g0145 a0018c0022t0024g0207	101	394	0.2564	-3	c.160 others(12): Show c.1608_1610delGGA	p.Glu others(6): Show p.Glu537del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1790/4986	1608/1653	536/550		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23275617	TTCCTCC TTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02257.hp2 HG02622.hp2 others(6): Show HG01109.hp2 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp1 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0019 a0007c0009 a0007c0019	a0007c0009t0009 a0007c0009t0010 a0007c0009t0031 others(1): Show a0007c0009t0009 a0007c0009t0010 a0007c0009t0031 a0007c0019t0042	a0007c0009t0009g0011 a0007c0009t0009g0027 a0007c0009t0009g0055 others(3): Show a0007c0009t0009g0011 a0007c0009t0009g0027 a0007c0009t0009g0055 a0007c0009t0010g0053 a0007c0009t0031g0054 a0007c0019t0042g0182	9	394	0.0228	-6	c.160 others(15): Show c.1605_1610delGGAGGA	p.Glu others(13): Show p.Glu536_Glu537del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1790/4986	1605/1653	535/550		chr14	TogoVar
HOXA13_chr7_27189364_27205091	27199700	TGCAGCGG others(11): Show TGCAGCGGCAGCCGCGGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0026 a0005c0006t0001g0026	1	416	0.0024	-18	c.360 others(25): Show c.360_377delTGCCGCGGCTGCCGCTGC	p.Ala others(13): Show p.Ala121_Ala126del	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding	1/2	391/5015	360/1167	120/388		chr7	TogoVar
HOXC8_chr12_54003985_54017769	54009528	CACGGAGA others(8): Show CACGGAGACGCCTCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0020 a0005c0003t0020	a0005c0003t0020g0001 a0005c0003t0020g0001	1	306	0.0033	-15	c.246 others(22): Show c.246_260delCGGAGACGCCTCCAA	p.His others(17): Show p.His82_Lys87delinsGln	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding	1/2	546/2417	246/729	82/242	INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXD13_chr2_176087721_176100944	176093057	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02027.hp1 NA18978.hp1 HG02027.hp1 NA18978.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0004 a0005c0006t0001g0001 a0005c0006t0001g0004	2	414	0.0048	-12	c.171 others(19): Show c.171_182delGGCGGCGGCGGC	p.Ala others(11): Show p.Ala58_Ala61del	HOXD13	ENSG00000128714.6	transcript	ENST00000392539.4	protein_coding	1/2	341/2416	171/1032	57/343	INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD8_chr2_176124705_176137695	176130550	CCGCACGC others(11): Show CCGCACGCGCCCCCGCAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp2 HG02886.hp1 HG03041.hp1 others(1): Show HG02622.hp2 HG02886.hp1 HG03041.hp1 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0016 a0004c0006t0001 a0004c0006t0016	a0004c0006t0001g0001 a0004c0006t0016g0001 a0004c0006t0001g0001 a0004c0006t0016g0001	4	400	0.0100	-18	c.194 others(25): Show c.194_211delCCCCGCAGGCGCACGCGC	p.Pro others(11): Show p.Pro65_Ala70del	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding	1/2	856/2618	194/873	65/290	INFO_REALIGN_3_PRIME	chr2	TogoVar
HRCT1_chr9_35901202_35912136	35906544	GCCTCCAC others(32): Show GCCTCCACCACCACCACCACCCCCGCCACACCCCTCACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp2 NA19002.hp2	a0052 a0052	a0052c0053 a0052c0053	a0052c0053t0001 a0052c0053t0001	a0052c0053t0001g0000 a0052c0053t0001g0000	1	430	0.0023	-39	c.281 others(46): Show c.281_319delGCCACACCCCTCACCACCTCCACCACCACCACCACCCC C	p.Arg others(12): Show p.Arg94_Pro106del	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	367/935	281/348	94/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	TCCA TCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(53): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG01106.hp1 HG01123.hp2 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02970.hp1 HG03017.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18971.hp1 NA18973.hp1 NA18989.hp2 NA18993.hp1 NA18999.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp1 NA20129.hp2	a0002 a0005 a0013 others(2): Show a0002 a0005 a0013 a0014 a0053	a0002c0002 a0005c0005 a0013c0013 others(2): Show a0002c0002 a0005c0005 a0013c0013 a0014c0014 a0053c0052	a0002c0002t0001 a0005c0005t0001 a0013c0013t0001 others(2): Show a0002c0002t0001 a0005c0005t0001 a0013c0013t0001 a0014c0014t0001 a0053c0052t0001	a0002c0002t0001g0000 a0005c0005t0001g0000 a0013c0013t0001g0000 others(2): Show a0002c0002t0001g0000 a0005c0005t0001g0000 a0013c0013t0001g0000 a0014c0014t0001g0000 a0053c0052t0001g0000	56	430	0.1302	-3	c.314 others(10): Show c.314_316delACC	p.His others(6): Show p.His105del	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	400/935	314/348	105/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRC_chr19_49146198_49160396	49154453	ACAT ACAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18953.hp1 NA18967.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0009 others(12): Show a0002 a0004 a0009 a0012 a0013 a0017 a0019 a0021 a0022 a0024 a0025 a0027 a0030 a0031 a0041	a0002c0002 a0002c0017 a0002c0046 others(16): Show a0002c0002 a0002c0017 a0002c0046 a0004c0004 a0004c0034 a0009c0008 a0012c0014 a0012c0036 a0013c0013 a0017c0022 a0019c0023 a0021c0018 a0022c0025 a0024c0021 a0025c0015 a0027c0054 a0030c0047 a0031c0045 a0041c0043	a0002c0002t0001 a0002c0017t0001 a0002c0046t0001 others(16): Show a0002c0002t0001 a0002c0017t0001 a0002c0046t0001 a0004c0004t0001 a0004c0034t0001 a0009c0008t0001 a0012c0014t0001 a0012c0036t0001 a0013c0013t0001 a0017c0022t0001 a0019c0023t0001 a0021c0018t0001 a0022c0025t0001 a0024c0021t0001 a0025c0015t0001 a0027c0054t0001 a0030c0047t0001 a0031c0045t0001 a0041c0043t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 others(28): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0017t0001g0022 a0002c0046t0001g0068 a0004c0004t0001g0004 a0004c0034t0001g0046 a0009c0008t0001g0008 a0012c0014t0001g0035 a0012c0014t0001g0074 a0012c0036t0001g0048 a0013c0013t0001g0020 a0017c0022t0001g0029 a0019c0023t0001g0030 a0021c0018t0001g0023 a0022c0025t0001g0036 a0024c0021t0001g0059 a0024c0021t0001g0060 a0025c0015t0001g0041 a0025c0015t0001g0042 a0027c0054t0001g0079 a0030c0047t0001g0069 a0031c0045t0001g0065 a0041c0043t0001g0061	133	406	0.3276	-3	c.782 others(10): Show c.782_784delATG	p.Asp others(6): Show p.Asp261del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	943/2357	782/2100	261/699		chr19	TogoVar
HRC_chr19_49146198_49160396	49154453	ACATCAT ACATCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02040.hp2 HG02109.hp1 HG02300.hp1 others(12): Show HG02040.hp2 HG02109.hp1 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2	a0010 a0015 a0016 others(6): Show a0010 a0015 a0016 a0026 a0029 a0032 a0033 a0035 a0036	a0010c0012 a0010c0057 a0015c0053 others(8): Show a0010c0012 a0010c0057 a0015c0053 a0015c0055 a0016c0027 a0026c0056 a0029c0044 a0032c0048 a0033c0030 a0035c0032 a0036c0035	a0010c0012t0001 a0010c0057t0001 a0015c0053t0001 others(8): Show a0010c0012t0001 a0010c0057t0001 a0015c0053t0001 a0015c0055t0001 a0016c0027t0001 a0026c0056t0001 a0029c0044t0001 a0032c0048t0001 a0033c0030t0001 a0035c0032t0002 a0036c0035t0001	a0010c0012t0001g0018 a0010c0057t0001g0082 a0015c0053t0001g0078 others(8): Show a0010c0012t0001g0018 a0010c0057t0001g0082 a0015c0053t0001g0078 a0015c0055t0001g0080 a0016c0027t0001g0037 a0026c0056t0001g0081 a0029c0044t0001g0062 a0032c0048t0001g0070 a0033c0030t0001g0044 a0035c0032t0002g0039 a0036c0035t0001g0047	15	406	0.0370	-6	c.779 others(13): Show c.779_784delATGATG	p.Asp others(13): Show p.Asp260_Asp261del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	943/2357	779/2100	260/699		chr19	TogoVar

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