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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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
GOLGA6L6_chr15_20526856_20546800	20535252	G G	GCGTATCT others(32): Show GCGTATCTTCTCCTCCTCCTGCCTCTTCTCTTCCTGCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01496.hp2 HG03195.hp2 HG01496.hp2 HG03195.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0004 a0018c0020t0004	a0018c0020t0004g0088 a0018c0020t0004g0089 a0018c0020t0004g0088 a0018c0020t0004g0089	2	214	0.0094	39	c.114 others(48): Show c.1143_1181dupGGAGCAGGAAGAGAAGAGGCAGGAGGAGGAGAAGAT ACG	p.Arg others(52): Show p.Arg394_Glu395insGluGlnGluGluLysArgGlnGluGluGluLy sIleArg	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1272/4013	1181/2175	394/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535333	T T	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG01099.hp2 HG01934.hp2 others(12): Show HG00741.hp1 HG01099.hp2 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 NA19079.hp2	a0005 a0012 a0019 others(3): Show a0005 a0012 a0019 a0024 a0027 a0028	a0005c0007 a0005c0027 a0012c0012 others(4): Show a0005c0007 a0005c0027 a0012c0012 a0019c0021 a0024c0026 a0027c0032 a0028c0031	a0005c0007t0005 a0005c0027t0005 a0012c0012t0005 others(4): Show a0005c0007t0005 a0005c0027t0005 a0012c0012t0005 a0019c0021t0005 a0024c0026t0005 a0027c0032t0005 a0028c0031t0005	a0005c0007t0005g0019 a0005c0007t0005g0041 a0005c0007t0005g0042 others(9): Show a0005c0007t0005g0019 a0005c0007t0005g0041 a0005c0007t0005g0042 a0005c0007t0005g0043 a0005c0007t0005g0045 a0005c0027t0005g0044 a0012c0012t0005g0020 a0012c0012t0005g0046 a0019c0021t0005g0025 a0024c0026t0005g0033 a0027c0032t0005g0054 a0028c0031t0005g0055	15	214	0.0701	42	c.105 others(51): Show c.1059_1100dupGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Met others(13): Show p.Met353_Lys366dup	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1191/4013	1100/2175	367/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20541599	A A	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp2 HG01071.hp2 HG01346.hp2 others(15): Show HG00609.hp2 HG01071.hp2 HG01346.hp2 HG01928.hp2 HG01934.hp1 HG02129.hp2 HG02523.hp2 HG02896.hp1 HG03239.hp1 HG03669.hp2 HG03927.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18960.hp1 NA18968.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0008 a0010 a0013 others(4): Show a0008 a0010 a0013 a0016 a0026 a0027 a0028	a0008c0008 a0008c0033 a0010c0013 others(6): Show a0008c0008 a0008c0033 a0010c0013 a0010c0029 a0013c0014 a0016c0018 a0026c0030 a0027c0032 a0028c0031	a0008c0008t0003 a0008c0008t0010 a0008c0033t0003 others(7): Show a0008c0008t0003 a0008c0008t0010 a0008c0033t0003 a0010c0013t0007 a0010c0029t0007 a0013c0014t0008 a0016c0018t0002 a0026c0030t0002 a0027c0032t0005 a0028c0031t0005	a0008c0008t0003g0021 a0008c0008t0003g0047 a0008c0008t0003g0050 others(10): Show a0008c0008t0003g0021 a0008c0008t0003g0047 a0008c0008t0003g0050 a0008c0008t0010g0048 a0008c0033t0003g0049 a0010c0013t0007g0012 a0010c0029t0007g0053 a0013c0014t0008g0023 a0013c0014t0008g0052 a0016c0018t0002g0022 a0026c0030t0002g0051 a0027c0032t0005g0054 a0028c0031t0005g0055	18	214	0.0841	18	c.93_ others(24): Show c.93_110dupCCACCTCCCTACCCATCC	p.Pro others(29): Show p.Pro37_Met38insHisLeuProThrHisPro	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	1/9	201/4013	110/2175	37/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20541599	A A	AGGATGGG others(29): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGACGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG01516.hp1 HG01517.hp1 HG01255.hp1 HG01516.hp1 HG01517.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0007 a0014c0015t0007	a0014c0015t0007g0013 a0014c0015t0007g0013	3	214	0.0140	36	c.110 others(43): Show c.110_111insCCACGTCCCTACCCATCCCCACCTCCCTACCCATCC	p.Pro others(47): Show p.Pro37_Met38insHisValProThrHisProHisLeuProThrHisP ro	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	1/9	201/4013	110/2175	37/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20541599	A A	AGGATGGG others(29): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG01099.hp2 HG01884.hp1 others(27): Show HG00558.hp1 HG01099.hp2 HG01884.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp1 HG02630.hp2 HG02723.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18949.hp1 NA18955.hp2 NA18967.hp1 NA18968.hp2 NA18984.hp2 NA19000.hp2 NA19003.hp1 NA19062.hp2 NA19075.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp1	a0003 a0005 a0012 others(2): Show a0003 a0005 a0012 a0015 a0025	a0003c0003 a0005c0007 a0005c0027 others(3): Show a0003c0003 a0005c0007 a0005c0027 a0012c0012 a0015c0017 a0025c0028	a0003c0003t0003 a0003c0003t0010 a0005c0007t0005 others(4): Show a0003c0003t0003 a0003c0003t0010 a0005c0007t0005 a0005c0027t0005 a0012c0012t0005 a0015c0017t0009 a0025c0028t0003	a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0018 others(15): Show a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0018 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0038 a0003c0003t0010g0036 a0005c0007t0005g0019 a0005c0007t0005g0041 a0005c0007t0005g0042 a0005c0007t0005g0043 a0005c0007t0005g0045 a0005c0027t0005g0044 a0012c0012t0005g0020 a0012c0012t0005g0046 a0015c0017t0009g0039 a0015c0017t0009g0040 a0025c0028t0003g0037	30	214	0.1402	36	c.75_ others(42): Show c.75_110dupCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC	p.Pro others(47): Show p.Pro37_Met38insHisLeuProThrHisProHisLeuProThrHisP ro	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	1/9	201/4013	110/2175	37/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20541599	A A	AGGATGGG others(47): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGA GGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp2 HG02965.hp1 NA18982.hp2 HG01257.hp2 HG02965.hp1 NA18982.hp2	a0022 a0023 a0024 a0022 a0023 a0024	a0022c0024 a0023c0025 a0024c0026 a0022c0024 a0023c0025 a0024c0026	a0022c0024t0007 a0023c0025t0002 a0024c0026t0005 a0022c0024t0007 a0023c0025t0002 a0024c0026t0005	a0022c0024t0007g0032 a0023c0025t0002g0031 a0024c0026t0005g0033 a0022c0024t0007g0032 a0023c0025t0002g0031 a0024c0026t0005g0033	3	214	0.0140	54	c.57_ others(60): Show c.57_110dupCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.Pro others(65): Show p.Pro37_Met38insHisLeuProThrHisProHisLeuProThrHisP roHisLeuProThrHisPro	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	1/9	201/4013	110/2175	37/724		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842973	C C	CCACATCT others(14): Show CCACATCTGCTCCTCCTGCTTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19089.hp2 NA19089.hp2	a0046 a0046	a0046c0031 a0046c0031	a0046c0031t0003 a0046c0031t0003	a0046c0031t0003g0104 a0046c0031t0003g0104	1	422	0.0024	21	c.113 others(30): Show c.1130_1131insAAAGCAGGAGGAGCAGATGTG	p.Arg others(34): Show p.Arg377_Lys378insLysGlnGluGluGlnMetTrp	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1225/2367	1130/1869	377/622		chr15	TogoVar
GOLGA6L9_chr15_82424816_82444153	82434267	T T	TGTGAACA others(14): Show TGTGAACAGGAGGAGAGGCTAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00408.hp1 HG02056.hp2 others(4): Show HG00099.hp2 HG00408.hp1 HG02056.hp2 HG02083.hp1 HG04204.hp2 NA18982.hp1 NA20905.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0008 a0009c0010t0040 a0009c0010t0008 a0009c0010t0040	a0009c0010t0008g0019 a0009c0010t0008g0042 a0009c0010t0040g0094 a0009c0010t0008g0019 a0009c0010t0008g0042 a0009c0010t0040g0094	7	455	0.0154	21	c.687 others(28): Show c.687_707dupACGTGAACAGGAGGAGAGGCT	p.Leu others(34): Show p.Leu236_Cys237insArgGluGlnGluGluArgLeu	GOLGA6L9	ENSG00000197978.10	transcript	ENST00000618348.2	protein_coding	6/9	972/4305	708/1299	236/432	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23361364	A A	AAGGAGAG others(14): Show AAGGAGAGGCTTCGGGAGCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0055 a0055	a0055c0101 a0055c0101	a0055c0101t0001 a0055c0101t0001	a0055c0101t0001g0073 a0055c0101t0001g0073	1	430	0.0023	21	c.107 others(30): Show c.1070_1090dupGGGAGCAGCAGGAGAGGCTTC	p.Arg others(13): Show p.Arg357_Leu363dup	GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	12/19	1153/5186	1091/1917	364/638	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA8T_chr15_30130051_30153748	30144828	T T	TGAA TGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp2 HG01256.hp2 HG01258.hp1 others(24): Show HG00558.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG02071.hp1 HG02132.hp2 HG02572.hp2 HG02602.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18970.hp2 NA18994.hp1 NA18995.hp2	a0003 a0008 a0014 others(3): Show a0003 a0008 a0014 a0015 a0019 a0028	a0003c0005 a0003c0049 a0008c0008 others(4): Show a0003c0005 a0003c0049 a0008c0008 a0014c0023 a0015c0024 a0019c0019 a0028c0048	a0003c0005t0005 a0003c0005t0007 a0003c0049t0005 others(6): Show a0003c0005t0005 a0003c0005t0007 a0003c0049t0005 a0008c0008t0006 a0008c0008t0023 a0014c0023t0005 a0015c0024t0012 a0019c0019t0014 a0028c0048t0005	a0003c0005t0005g0044 a0003c0005t0005g0139 a0003c0005t0005g0144 others(19): Show a0003c0005t0005g0044 a0003c0005t0005g0139 a0003c0005t0005g0144 a0003c0005t0005g0156 a0003c0005t0005g0157 a0003c0005t0007g0019 a0003c0005t0007g0142 a0003c0005t0007g0145 a0003c0005t0007g0146 a0003c0049t0005g0143 a0008c0008t0006g0022 a0008c0008t0006g0174 a0008c0008t0006g0175 a0008c0008t0006g0176 a0008c0008t0006g0177 a0008c0008t0023g0022 a0014c0023t0005g0043 a0015c0024t0012g0140 a0015c0024t0012g0141 a0019c0019t0014g0134 a0019c0019t0014g0135 a0028c0048t0005g0147	27	291	0.0928	3	c.141 others(12): Show c.1419_1421dupGAA	p.Lys others(6): Show p.Lys474dup	GOLGA8T	ENSG00000261247.2	transcript	ENST00000569052.2	protein_coding	16/19	1520/5175	1422/1896	474/631	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOT2_chr16_58702131_58739316	58734157	C C	CGCGGCGG others(17): Show CGCGGCGGCGAGGCCCGGGTGGAAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02257.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0050 a0009c0012t0001g0050	1	400	0.0025	24	c.48_ others(29): Show c.48_71dupCTTCCACCCGGGCCTCGCCGCCGC	p.Ala others(35): Show p.Ala24_Ala25insPheHisProGlyLeuAlaAlaAla	GOT2	ENSG00000125166.13	transcript	ENST00000245206.10	protein_coding	1/10	159/2421	71/1293	24/430		chr16	TogoVar
GP1BA_chr17_4927277_4940023	4933837	A A	AGAGCCCA others(32): Show AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp1 HG02135.hp2 NA18950.hp2 others(12): Show HG02015.hp1 HG02135.hp2 NA18950.hp2 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0001 a0004c0006t0001g0003	15	424	0.0354	39	c.127 others(48): Show c.1272_1310dupGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCAC CCC	p.Pro others(52): Show p.Pro437_Glu438insGluProThrSerGluProAlaProSerProTh rThrPro	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1406/2514	1311/1959	437/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GP1BA_chr17_4927277_4940023	4933837	A A	AGAGCCCA others(32): Show AGAGCCCACCTCAGAGCCTGCCCCCAGCCCGACCACCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18942.hp2 NA19075.hp1 NA18942.hp2 NA19075.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0001 a0004c0012t0001g0001	2	424	0.0047	39	c.125 others(48): Show c.1250_1251insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGA GCC	p.Pro others(52): Show p.Pro417_Ala418insAlaProSerProThrThrProGluProThrSe rGluPro	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1346/2514	1251/1959	417/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GPC2_chr7_100164606_100182381	100175875	G G	GAGCATCT others(5): Show GAGCATCTCCAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0078 a0002c0013t0001g0078	1	400	0.0025	12	c.333 others(19): Show c.333_344dupTCTGGAGATGCT	p.Leu others(25): Show p.Leu115_Ser116insLeuGluMetLeu	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	3/10	526/2546	344/1740	115/579		chr7	TogoVar
GPRC6A_chr6_116787085_116834083	116792598	A A	AGGT AGGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show HG00099.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA19030.hp1 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0003 a0005 a0015 others(1): Show a0003 a0005 a0015 a0017	a0003c0003 a0005c0005 a0005c0015 others(3): Show a0003c0003 a0005c0005 a0005c0015 a0005c0028 a0015c0023 a0017c0025	a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 others(3): Show a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0015c0023t0001 a0017c0025t0001	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0166 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0255 a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262 a0015c0023t0001g0083 a0017c0025t0001g0252	60	368	0.1630	3	c.232 others(12): Show c.2324_2325insACC	p.Tyr others(15): Show p.Tyr775delinsTerPro	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	6/6	2394/2908	2324/2781	775/926		chr6	TogoVar
GRIN3B_chr19_995419_1014732	1000449	G G	GCGGGCGC others(11): Show GCGGGCGCTGTGGCTGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0109 a0109	a0109c0056 a0109c0056	a0109c0056t0001 a0109c0056t0001	a0109c0056t0001g0143 a0109c0056t0001g0143	1	446	0.0022	18	c.14_ others(23): Show c.14_31dupGGGCGCTGTGGCTGGGCC	p.Arg others(10): Show p.Arg5_Gly10dup	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	1/9	51/3281	32/3132	11/1043	INFO_REALIGN_3_PRIME	chr19	TogoVar
GSE1_chr16_85608322_85681200	85656376	G G	GGAGCGCG others(5): Show GGAGCGCGAGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02300.hp1 HG02300.hp1	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0003 a0027c0027t0003	a0027c0027t0003g0181 a0027c0027t0003g0181	1	290	0.0035	12	c.103 others(21): Show c.1035_1046dupCGAGCGCGAGCG	p.Arg others(25): Show p.Arg349_Glu350insGluArgGluArg	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1117/7385	1047/3654	349/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85656376	G G	GGAGCGCG others(11): Show GGAGCGCGAGCGCGAGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18950.hp1 NA18950.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0030 a0013c0022t0030	a0013c0022t0030g0072 a0013c0022t0030g0072	1	290	0.0035	18	c.102 others(27): Show c.1029_1046dupCGAGCGCGAGCGCGAGCG	p.Arg others(31): Show p.Arg349_Glu350insGluArgGluArgGluArg	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1117/7385	1047/3654	349/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85656376	G G	GGAGCGCG others(17): Show GGAGCGCGAGCGCGAGCGCGAGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp2 HG01978.hp2	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0003 a0028c0026t0003	a0028c0026t0003g0183 a0028c0026t0003g0183	1	290	0.0035	24	c.104 others(33): Show c.1046_1047insCGAGCGCGAGCGCGAGCGCGAGCG	p.Arg others(37): Show p.Arg349_Glu350insGluArgGluArgGluArgGluArg	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1117/7385	1047/3654	349/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSPT1_chr16_11863128_11920956	11915673	C C	CCCG CCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(43): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01106.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG03130.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp1 NA18941.hp2 NA18951.hp1 NA18971.hp1 NA18974.hp2 NA18987.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0023 a0005c0006 others(1): Show a0003c0003 a0003c0023 a0005c0006 a0005c0012	a0003c0003t0003 a0003c0003t0020 a0003c0003t0023 others(8): Show a0003c0003t0003 a0003c0003t0020 a0003c0003t0023 a0003c0003t0040 a0003c0003t0054 a0003c0023t0003 a0005c0006t0005 a0005c0006t0006 a0005c0006t0014 a0005c0006t0034 a0005c0012t0003	a0003c0003t0003g0092 a0003c0003t0003g0094 a0003c0003t0003g0095 others(43): Show a0003c0003t0003g0092 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0096 a0003c0003t0003g0097 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0106 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0020g0109 a0003c0003t0023g0100 a0003c0003t0023g0102 a0003c0003t0040g0105 a0003c0003t0054g0112 a0003c0023t0003g0093 a0005c0006t0005g0084 a0005c0006t0005g0085 a0005c0006t0006g0083 a0005c0006t0014g0086 a0005c0006t0014g0087 a0005c0006t0014g0088 a0005c0006t0014g0089 a0005c0006t0034g0072 a0005c0012t0003g0090 a0005c0012t0003g0091	46	372	0.1237	3	c.45_ others(8): Show c.45_47dupCGG	p.Gly others(5): Show p.Gly16dup	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/15	283/7141	47/1914	16/637		chr16	TogoVar
GSPT1_chr16_11863128_11920956	11915673	C C	CCCGCCG CCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG03688.hp1 HG03704.hp1 others(1): Show HG02145.hp1 HG03688.hp1 HG03704.hp1 NA20752.hp2	a0010 a0011 a0010 a0011	a0010c0011 a0011c0021 a0011c0022 a0010c0011 a0011c0021 a0011c0022	a0010c0011t0003 a0010c0011t0020 a0011c0021t0028 others(1): Show a0010c0011t0003 a0010c0011t0020 a0011c0021t0028 a0011c0022t0049	a0010c0011t0003g0081 a0010c0011t0020g0082 a0011c0021t0028g0012 others(1): Show a0010c0011t0003g0081 a0010c0011t0020g0082 a0011c0021t0028g0012 a0011c0022t0049g0080	4	372	0.0108	6	c.42_ others(11): Show c.42_47dupCGGCGG	p.Gly others(11): Show p.Gly15_Gly16dup	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/15	283/7141	47/1914	16/637		chr16	TogoVar
GSPT1_chr16_11863128_11920956	11915673	C C	CCCGCCGC others(2): Show CCCGCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp1 HG02886.hp2 HG03579.hp2 HG02135.hp1 HG02886.hp2 HG03579.hp2	a0009 a0015 a0009 a0015	a0009c0018 a0009c0019 a0015c0020 a0009c0018 a0009c0019 a0015c0020	a0009c0018t0015 a0009c0019t0033 a0015c0020t0002 a0009c0018t0015 a0009c0019t0033 a0015c0020t0002	a0009c0018t0015g0011 a0009c0019t0033g0010 a0015c0020t0002g0079 a0009c0018t0015g0011 a0009c0019t0033g0010 a0015c0020t0002g0079	3	372	0.0081	9	c.39_ others(14): Show c.39_47dupCGGCGGCGG	p.Gly others(11): Show p.Gly14_Gly16dup	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/15	283/7141	47/1914	16/637		chr16	TogoVar
GSPT1_chr16_11863128_11920956	11915673	C C	CCCGCCGC others(5): Show CCCGCCGCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG02647.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0050 a0013c0017t0050	a0013c0017t0050g0078 a0013c0017t0050g0078	1	372	0.0027	12	c.36_ others(17): Show c.36_47dupCGGCGGCGGCGG	p.Gly others(11): Show p.Gly13_Gly16dup	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/15	283/7141	47/1914	16/637		chr16	TogoVar
GSPT1_chr16_11863128_11920956	11915673	C C	CCCGCCGC others(8): Show CCCGCCGCCGCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0015 a0008c0010t0015	a0008c0010t0015g0008 a0008c0010t0015g0009 a0008c0010t0015g0008 a0008c0010t0015g0009	2	372	0.0054	15	c.33_ others(20): Show c.33_47dupCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly12_Gly16dup	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/15	283/7141	47/1914	16/637		chr16	TogoVar
HADHB_chr2_26239939_26295465	26254257	G G	GACT GACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 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 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.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 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp1 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0005 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0006 a0001c0004t0003 a0003c0005t0004 a0005c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(177): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0004g0236 a0001c0001t0005g0004 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0006g0061 a0001c0004t0003g0165 a0001c0004t0003g0166 a0001c0004t0003g0185 a0001c0004t0003g0187 a0001c0004t0003g0193 a0001c0004t0003g0217 a0001c0004t0003g0218 a0001c0004t0003g0219 a0003c0005t0004g0017 a0003c0005t0004g0081 a0003c0005t0004g0089 a0003c0005t0004g0245 a0005c0006t0001g0243	194	290	0.6690	3	c.5_7 others(6): Show c.5_7dupCTA	p.Thr others(4): Show p.Thr2dup	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	2/16	68/1997	8/1425	3/474	INFO_REALIGN_3_PRIME	chr2	TogoVar
HAVCR1_chr5_157024413_157064116	157052557	C C	CGTT CGTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(113): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.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 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19072.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0008 a0011	a0002c0002 a0002c0011 a0005c0005 others(3): Show a0002c0002 a0002c0011 a0005c0005 a0006c0006 a0008c0010 a0011c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0011t0002 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0006c0006t0003 a0006c0006t0005 a0008c0010t0004 a0011c0012t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0048 others(107): 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 a0005c0005t0001g0001 a0005c0005t0001g0072 a0005c0005t0001g0091 a0005c0005t0001g0097 a0005c0005t0001g0098 a0005c0005t0001g0100 a0005c0005t0001g0290 a0005c0005t0001g0298 a0005c0005t0001g0299 a0005c0005t0001g0314 a0005c0005t0002g0040 a0006c0006t0002g0009 a0006c0006t0003g0003 a0006c0006t0003g0045 a0006c0006t0003g0046 a0006c0006t0003g0047 a0006c0006t0005g0212 a0006c0006t0005g0317 a0008c0010t0004g0214 a0008c0010t0004g0223 a0008c0010t0004g0231 a0011c0012t0001g0333	116	352	0.3296	3	c.476 others(10): Show c.476_477insAAC	p.Thr others(6): Show p.Thr159dup	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	4/9	684/1623	476/1095	159/364		chr5	TogoVar
HBP1_chr7_107164003_107207522	107185935	A A	ATTC ATTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02129.hp2 NA18955.hp1 NA18964.hp1 others(2): Show HG02129.hp2 NA18955.hp1 NA18964.hp1 NA18987.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0235 a0002c0003t0002g0239 a0002c0003t0002g0003 a0002c0003t0002g0235 a0002c0003t0002g0239	5	368	0.0136	3	c.533 others(10): Show c.533_534insTTC	p.His others(16): Show p.His178_Glu179insSer	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	4/11	732/2834	534/1545	178/514		chr7	TogoVar
HCLS1_chr3_121626399_121665903	121632468	G G	GGGCTCAG others(5): Show GGGCTCAGGCTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(103): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02970.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20805.hp1 NA21309.hp2	a0003 a0007 a0011 others(2): Show a0003 a0007 a0011 a0012 a0014	a0003c0003 a0003c0013 a0003c0017 others(4): Show a0003c0003 a0003c0013 a0003c0017 a0007c0010 a0011c0019 a0012c0016 a0014c0015	a0003c0003t0002 a0003c0013t0002 a0003c0013t0011 others(5): Show a0003c0003t0002 a0003c0013t0002 a0003c0013t0011 a0003c0017t0002 a0007c0010t0002 a0011c0019t0002 a0012c0016t0002 a0014c0015t0002	a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0010 others(80): Show a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0012 a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0038 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0175 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0013t0002g0137 a0003c0013t0011g0139 a0003c0017t0002g0138 a0007c0010t0002g0134 a0007c0010t0002g0135 a0007c0010t0002g0136 a0011c0019t0002g0164 a0012c0016t0002g0089 a0014c0015t0002g0176	106	390	0.2718	12	c.109 others(21): Show c.1092_1103dupTGAGCCTGAGCC	p.Pro others(25): Show p.Pro368_Glu369insGluProGluPro	HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding	12/14	1187/1992	1103/1461	368/486		chr3	TogoVar
HCN2_chr19_584881_622159	590007	G G	GGCCGCCG others(32): Show GGCCGCCGCCGCCGCCGCCGCCCGCGCCCCCCCAACAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01081.hp2	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0001 a0017c0049t0001	a0017c0049t0001g0311 a0017c0049t0001g0311	1	408	0.0025	39	c.95_ others(45): Show c.95_133dupAACAGCAGCCGCCGCCGCCGCCGCCGCCCGCGCCCCCCC	p.Gln others(11): Show p.Gln32_Pro44dup	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/8	199/3420	134/2670	45/889	INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	615946	C C	CCCGCCGC others(2): Show CCCGCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02080.hp2 HG03927.hp2 NA19074.hp2 HG02080.hp2 HG03927.hp2 NA19074.hp2	a0007 a0009 a0007 a0009	a0007c0095 a0007c0106 a0009c0061 a0007c0095 a0007c0106 a0009c0061	a0007c0095t0001 a0007c0106t0002 a0009c0061t0001 a0007c0095t0001 a0007c0106t0002 a0009c0061t0001	a0007c0095t0001g0211 a0007c0106t0002g0187 a0009c0061t0001g0356 a0007c0095t0001g0211 a0007c0106t0002g0187 a0009c0061t0001g0356	3	408	0.0074	9	c.215 others(18): Show c.2156_2164dupCGCCGCCGC	p.Pro others(13): Show p.Pro719_Pro721dup	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	8/8	2230/3420	2165/2670	722/889	INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	616132	C C	CCCCGCCA others(14): Show CCCCGCCAGCCCCCCGGGCGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01981.hp2 HG02273.hp1 HG01981.hp2 HG02273.hp1	a0008 a0008	a0008c0092 a0008c0103 a0008c0092 a0008c0103	a0008c0092t0001 a0008c0103t0001 a0008c0092t0001 a0008c0103t0001	a0008c0092t0001g0123 a0008c0103t0001g0393 a0008c0092t0001g0123 a0008c0103t0001g0393	2	408	0.0049	21	c.234 others(30): Show c.2342_2362dupCGGGCGCGCCCGCCAGCCCCC	p.Pro others(13): Show p.Pro781_Pro787dup	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	8/8	2428/3420	2363/2670	788/889	INFO_REALIGN_3_PRIME	chr19	TogoVar
HDDC3_chr15_90924968_90937549	90931281	T T	TGTC TGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03017.hp2 HG03710.hp1 HG04184.hp2 HG03017.hp2 HG03710.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0015 a0002c0002t0010g0026 a0002c0002t0001g0015 a0002c0002t0010g0026	3	400	0.0075	3	c.531 others(10): Show c.531_533dupGAC	p.Thr others(6): Show p.Thr178dup	HDDC3	ENSG00000184508.12	transcript	ENST00000394272.8	protein_coding	4/4	542/1856	533/540	178/179		chr15	TogoVar
HDGFL1_chr6_22564566_22576666	22570091	G G	GGCGGAGA others(11): Show GGCGGAGAGGGCGGCGGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG01109.hp1 HG03453.hp1 NA18906.hp1 NA19240.hp2	a0004 a0007 a0004 a0007	a0004c0006 a0007c0012 a0004c0006 a0007c0012	a0004c0006t0003 a0004c0006t0018 a0007c0012t0024 a0004c0006t0003 a0004c0006t0018 a0007c0012t0024	a0004c0006t0003g0000 a0004c0006t0018g0000 a0007c0012t0024g0000 a0004c0006t0003g0000 a0004c0006t0018g0000 a0007c0012t0024g0000	4	432	0.0093	18	c.533 others(25): Show c.533_550dupAAGCGGAGAGGGCGGCGG	p.Glu others(13): Show p.Glu178_Ala183dup	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding	1/1	561/2101	551/756	184/251	INFO_REALIGN_3_PRIME	chr6	TogoVar
HEG1_chr3_124960710_125060997	125013575	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAGGAAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00544.hp2 others(108): Show HG00099.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0002 a0004 a0005 others(16): Show a0002 a0004 a0005 a0008 a0013 a0015 a0024 a0026 a0031 a0032 a0037 a0039 a0040 a0044 a0045 a0046 a0048 a0052 a0056	a0002c0003 a0002c0014 a0002c0049 others(33): Show a0002c0003 a0002c0014 a0002c0049 a0002c0071 a0004c0005 a0004c0028 a0004c0033 a0004c0035 a0004c0044 a0004c0048 a0004c0081 a0004c0082 a0005c0007 a0005c0038 a0005c0039 a0008c0012 a0008c0013 a0008c0060 a0013c0040 a0013c0042 a0013c0089 a0015c0017 a0024c0031 a0026c0053 a0026c0054 a0031c0097 a0032c0055 a0037c0083 a0039c0087 a0040c0078 a0044c0074 a0045c0073 a0046c0072 a0048c0070 a0052c0094 a0056c0092	a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 others(78): Show a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0015 a0002c0003t0046 a0002c0003t0074 a0002c0003t0078 a0002c0003t0082 a0002c0003t0089 a0002c0014t0006 a0002c0014t0015 a0002c0014t0075 a0002c0014t0120 a0002c0014t0121 a0002c0049t0087 a0002c0071t0083 a0004c0005t0004 a0004c0005t0009 a0004c0005t0010 a0004c0005t0011 a0004c0005t0012 a0004c0005t0027 a0004c0005t0028 a0004c0005t0042 a0004c0005t0043 a0004c0005t0135 a0004c0028t0020 a0004c0028t0080 a0004c0033t0023 a0004c0033t0094 a0004c0035t0001 a0004c0044t0023 a0004c0048t0029 a0004c0081t0116 a0004c0082t0069 a0005c0007t0013 a0005c0007t0014 a0005c0007t0025 a0005c0007t0055 a0005c0007t0060 a0005c0007t0123 a0005c0007t0125 a0005c0007t0129 a0005c0007t0136 a0005c0007t0137 a0005c0038t0013 a0005c0038t0131 a0005c0039t0017 a0008c0012t0013 a0008c0012t0017 a0008c0013t0004 a0008c0013t0006 a0008c0013t0014 a0008c0013t0058 a0008c0013t0124 a0008c0060t0139 a0013c0040t0028 a0013c0040t0059 a0013c0042t0004 a0013c0042t0134 a0013c0089t0026 a0015c0017t0028 a0015c0017t0041 a0015c0017t0045 a0015c0017t0096 a0024c0031t0012 a0024c0031t0043 a0026c0053t0001 a0026c0054t0110 a0031c0097t0015 a0032c0055t0002 a0037c0083t0046 a0039c0087t0021 a0040c0078t0015 a0044c0074t0071 a0045c0073t0056 a0046c0072t0026 a0048c0070t0012 a0052c0094t0004 a0056c0092t0133	a0002c0003t0002g0156 a0002c0003t0003g0003 a0002c0003t0003g0004 others(104): Show a0002c0003t0002g0156 a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0099 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0006g0267 a0002c0003t0006g0286 a0002c0003t0007g0069 a0002c0003t0007g0070 a0002c0003t0007g0076 a0002c0003t0007g0082 a0002c0003t0007g0100 a0002c0003t0007g0148 a0002c0003t0015g0071 a0002c0003t0015g0083 a0002c0003t0046g0117 a0002c0003t0074g0075 a0002c0003t0078g0073 a0002c0003t0082g0184 a0002c0003t0089g0125 a0002c0014t0006g0258 a0002c0014t0015g0116 a0002c0014t0075g0078 a0002c0014t0120g0263 a0002c0014t0121g0257 a0002c0049t0087g0028 a0002c0071t0083g0185 a0004c0005t0004g0278 a0004c0005t0009g0077 a0004c0005t0010g0044 a0004c0005t0010g0066 a0004c0005t0010g0165 a0004c0005t0010g0202 a0004c0005t0011g0197 a0004c0005t0012g0112 a0004c0005t0012g0157 a0004c0005t0027g0260 a0004c0005t0028g0259 a0004c0005t0028g0261 a0004c0005t0042g0158 a0004c0005t0043g0147 a0004c0005t0135g0272 a0004c0028t0020g0025 a0004c0028t0080g0027 a0004c0033t0023g0163 a0004c0033t0094g0164 a0004c0035t0001g0102 a0004c0035t0001g0154 a0004c0044t0023g0015 a0004c0048t0029g0023 a0004c0081t0116g0246 a0004c0082t0069g0190 a0005c0007t0013g0307 a0005c0007t0013g0314 a0005c0007t0013g0338 a0005c0007t0014g0309 a0005c0007t0025g0308 a0005c0007t0055g0322 a0005c0007t0060g0334 a0005c0007t0060g0335 a0005c0007t0123g0351 a0005c0007t0125g0346 a0005c0007t0129g0347 a0005c0007t0136g0319 a0005c0007t0137g0337 a0005c0038t0013g0324 a0005c0038t0131g0303 a0005c0039t0017g0325 a0005c0039t0017g0340 a0008c0012t0013g0227 a0008c0012t0013g0228 a0008c0012t0017g0006 a0008c0012t0017g0226 a0008c0013t0004g0212 a0008c0013t0006g0229 a0008c0013t0014g0213 a0008c0013t0058g0230 a0008c0013t0124g0234 a0008c0060t0139g0218 a0013c0040t0028g0336 a0013c0040t0059g0315 a0013c0042t0004g0349 a0013c0042t0134g0345 a0013c0089t0026g0313 a0015c0017t0028g0284 a0015c0017t0041g0152 a0015c0017t0045g0131 a0015c0017t0096g0048 a0024c0031t0012g0032 a0024c0031t0043g0038 a0026c0053t0001g0033 a0026c0054t0110g0039 a0031c0097t0015g0207 a0032c0055t0002g0040 a0037c0083t0046g0118 a0039c0087t0021g0090 a0040c0078t0015g0155 a0044c0074t0071g0189 a0045c0073t0056g0299 a0046c0072t0026g0271 a0048c0070t0012g0052 a0052c0094t0004g0332 a0056c0092t0133g0316	111	362	0.3066	18	c.198 others(27): Show c.1986_2003dupCTCTTCCTCCTCCTCCTC	p.Ser others(13): Show p.Ser663_Ser668dup	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	6/17	2110/9195	2003/4146	668/1381		chr3	TogoVar
HES1_chr3_194131148_194143732	194137960	C C	CCCCGGGG others(14): Show CCCCGGGGGCGCGGCGCCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0002 a0002c0003t0003g0002	1	434	0.0023	21	c.576 others(28): Show c.576_596dupGGGCGCGGCGCCCCCTCCCGG	p.Gly others(34): Show p.Gly199_Gly200insGlyAlaAlaProProProGly	HES1	ENSG00000114315.4	transcript	ENST00000232424.4	protein_coding	4/4	830/1575	597/843	199/280	INFO_REALIGN_3_PRIME	chr3	TogoVar
HES5_chr1_2523745_2535263	2529505	C C	CGCG CGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG02622.hp1 HG03486.hp2 HG01243.hp2 HG02622.hp1 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0006 a0003c0003t0004g0006	3	427	0.0070	3	c.462 others(10): Show c.462_464dupCGC	p.Ala others(6): Show p.Ala155dup	HES5	ENSG00000197921.6	transcript	ENST00000378453.4	protein_coding	3/3	563/1324	464/501	155/166		chr1	TogoVar
HGFAC_chr4_3436968_3454486	3442026	A A	AGCCCCTG others(17): Show AGCCCCTGGCCCCCACCGGGGCTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18985.hp1 NA18985.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0001 a0028c0034t0001g0001	1	454	0.0022	24	c.32_ others(29): Show c.32_55dupGGCCCCCACCGGGGCTGGGCCCCT	p.Trp others(11): Show p.Trp11_Pro18dup	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding	1/14	90/2069	56/1968	19/655	INFO_REALIGN_3_PRIME	chr4	TogoVar
HLX_chr1_220874443_220890059	220880258	A A	AGCAGCAA others(8): Show AGCAGCAACAGCCGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(12): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG02004.hp2 HG02293.hp2 HG03834.hp2 NA18951.hp1 NA18962.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA19012.hp2 NA19062.hp1 NA19087.hp1 NA19090.hp2	a0005 a0007 a0005 a0007	a0005c0005 a0007c0008 a0005c0005 a0007c0008	a0005c0005t0006 a0007c0008t0006 a0005c0005t0006 a0007c0008t0006	a0005c0005t0006g0006 a0005c0005t0006g0116 a0007c0008t0006g0006 a0005c0005t0006g0006 a0005c0005t0006g0116 a0007c0008t0006g0006	15	438	0.0343	15	c.413 others(22): Show c.413_414insGCCGCAGCAACAGCC	p.Pro others(28): Show p.Pro138_Pro139insProGlnGlnGlnPro	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding	1/4	829/2237	414/1467	138/488	INFO_REALIGN_3_PRIME	chr1	TogoVar
HOXA1_chr7_27087993_27101000	27095697	A A	ATGG ATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG02886.hp2 HG02895.hp1 others(6): Show HG01891.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 NA19065.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0007 a0003c0003 a0004c0005 a0005c0007	a0003c0003t0001 a0004c0005t0001 a0005c0007t0001 a0003c0003t0001 a0004c0005t0001 a0005c0007t0001	a0003c0003t0001g0011 a0003c0003t0001g0012 a0004c0005t0001g0009 others(1): Show a0003c0003t0001g0011 a0003c0003t0001g0012 a0004c0005t0001g0009 a0005c0007t0001g0013	9	414	0.0217	3	c.213 others(10): Show c.213_215dupCCA	p.His others(5): Show p.His72dup	HOXA1	ENSG00000105991.10	transcript	ENST00000643460.2	protein_coding	1/2	303/2543	215/1008	72/335		chr7	TogoVar
HOXB3_chr17_48543870_48595241	48551141	T T	TCCGCCGC others(5): Show TCCGCCGCCGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0027 a0005c0008t0001g0027	1	374	0.0027	12	c.477 others(19): Show c.477_488dupCGGCGGCGGCGG	p.Gly others(13): Show p.Gly160_Gly163dup	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	5/5	1029/3301	488/1296	163/431		chr17	TogoVar
HOXC13_chr12_53933831_53951544	53938949	C C	CTTA CTTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00733.hp1 HG02683.hp1 HG03017.hp2 others(1): Show HG00733.hp1 HG02683.hp1 HG03017.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0066 a0002c0002t0002g0012 a0002c0002t0002g0066	4	402	0.0100	3	c.45_ others(8): Show c.45_47dupTAT	p.Leu others(14): Show p.Leu15_Met16insIle	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/2	124/2357	48/993	16/330	INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXD13_chr2_176087721_176100944	176093082	T T	TGCGGCGG others(5): Show TGCGGCGGCGGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03704.hp2 HG03704.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0005 a0006c0012t0002g0005	1	414	0.0024	12	c.203 others(19): Show c.203_204insAGCGGCGGCGGC	p.Ala others(11): Show p.Ala65_Ala68dup	HOXD13	ENSG00000128714.6	transcript	ENST00000392539.4	protein_coding	1/2	374/2416	204/1032	68/343	INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD9_chr2_176117719_176129937	176123562	C C	CGCA CGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(143): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0002c0007 a0002c0012 others(2): Show a0002c0002 a0002c0007 a0002c0012 a0005c0008 a0007c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0007t0001 a0002c0012t0001 a0005c0008t0001 a0007c0011t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 others(7): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0009g0001 a0002c0002t0010g0001 a0002c0002t0011g0001 a0002c0007t0001g0001 a0002c0012t0001g0001 a0005c0008t0001g0001 a0007c0011t0001g0001	146	404	0.3614	3	c.804 others(10): Show c.804_806dupGCA	p.Gln others(6): Show p.Gln269dup	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding	1/2	857/1871	807/1059	269/352	INFO_REALIGN_3_PRIME	chr2	TogoVar
HRCT1_chr9_35901202_35912136	35906547	T T	TCCACCAC others(35): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18939.hp2 NA18945.hp1 NA18986.hp2 others(6): Show NA18939.hp2 NA18945.hp1 NA18986.hp2 NA18991.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19086.hp2	a0009 a0043 a0009 a0043	a0009c0009 a0043c0043 a0009c0009 a0043c0043	a0009c0009t0001 a0043c0043t0001 a0009c0009t0001 a0043c0043t0001	a0009c0009t0001g0000 a0043c0043t0001g0000 a0009c0009t0001g0000 a0043c0043t0001g0000	9	430	0.0209	42	c.275 others(49): Show c.275_316dupACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACC	p.His others(12): Show p.His92_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906547	T T	TCCACCAC others(41): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0078 a0078	a0078c0082 a0078c0082	a0078c0082t0001 a0078c0082t0001	a0078c0082t0001g0000 a0078c0082t0001g0000	1	430	0.0023	48	c.269 others(55): Show c.269_316dupACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACC	p.His others(12): Show p.His90_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906547	T T	TCCACCAC others(77): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCAC CACCACCACCCCCGCCACACCCCTCACCACCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18992.hp2 NA18992.hp2	a0063 a0063	a0063c0063 a0063c0063	a0063c0063t0001 a0063c0063t0001	a0063c0063t0001g0000 a0063c0063t0001g0000	1	430	0.0023	84	c.316 others(91): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACC	p.His others(97): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH is	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906563	C C	CCCCCACC others(8): Show CCCCCACCGCCACCAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19080.hp2 NA19080.hp2	a0053 a0053	a0053c0052 a0053c0052	a0053c0052t0001 a0053c0052t0001	a0053c0052t0001g0000 a0053c0052t0001g0000	1	430	0.0023	15	c.280 others(22): Show c.280_281insACCGCCACCATCCCC	p.Pro others(26): Show p.Pro93_Arg94insHisArgHisHisPro	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	35906568	G G	GCCACACC others(44): Show GCCACACCCCTCACCACCTCCACCACCACCACCACCCCCACCACCACCCC CA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG01261.hp2 HG00741.hp2 HG01261.hp2	a0044 a0065 a0044 a0065	a0044c0044 a0065c0065 a0044c0044 a0065c0065	a0044c0044t0001 a0065c0065t0001 a0044c0044t0001 a0065c0065t0001	a0044c0044t0001g0000 a0065c0065t0001g0000 a0044c0044t0001g0000 a0065c0065t0001g0000	2	430	0.0047	51	c.322 others(58): Show c.322_323insACCACCCCCACCACACCCCTCACCACCTCCACCACCAC CACCACCCCCACC	p.His others(64): Show p.His107_Arg108insHisHisProHisHisThrProHisHisLeuHi sHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906568	G G	GCCACACC others(44): Show GCCACACCCCTCACCACCTCCACCACCACCACCACCCCCACCGCCACCCC CA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0036 a0036	a0036c0036 a0036c0036	a0036c0036t0001 a0036c0036t0001	a0036c0036t0001g0000 a0036c0036t0001g0000	2	430	0.0047	51	c.328 others(58): Show c.328_329insCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CCCCACCGCCACC	p.His others(64): Show p.His109_His110insProHisHisThrProHisHisLeuHisHisHi sHisHisProHisArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	415/935	329/348	110/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906578	T T	TCACCACC others(8): Show TCACCACCTCCACCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp2 HG06807.hp1 HG01074.hp2 HG06807.hp1	a0037 a0037	a0037c0037 a0037c0037	a0037c0037t0001 a0037c0037t0001	a0037c0037t0001g0000 a0037c0037t0001g0000	2	430	0.0047	15	c.299 others(22): Show c.299_313dupTCCACCACCACCACC	p.Leu others(13): Show p.Leu100_His104dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	400/935	314/348	105/115	INFO_REALIGN_3_PRIME	chr9	TogoVar

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