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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAH10_chr12_123757301_123940714	123896148	C C	CACACACA others(13): Show CACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0024 a0024	a0024c0024 a0024c0024	a0024c0024t0001 a0024c0024t0001	a0024c0024t0001g0008 a0024c0024t0001g0008	1	170	0.0059	20	c.928 others(39): Show c.9280+1426_9280+1427insCACACAGAGAGAGAGAGAGA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	54/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911594	T T	TGGGGGGG others(13): Show TGGGGGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03492.hp2 HG02976.hp1 HG03492.hp2	a0003 a0065 a0003 a0065	a0003c0005 a0065c0094 a0003c0005 a0065c0094	a0003c0005t0002 a0065c0094t0002 a0003c0005t0002 a0065c0094t0002	a0003c0005t0002g0070 a0065c0094t0002g0151 a0003c0005t0002g0070 a0065c0094t0002g0151	2	170	0.0118	20	c.101 others(39): Show c.10134+931_10134+932insGGTCTGTCCTGGGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21612554	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0154 a0154	a0154c0178 a0154c0178	a0154c0178t0002 a0154c0178t0002	a0154c0178t0002g0126 a0154c0178t0002g0126	1	298	0.0034	20	c.385 others(39): Show c.3853-2557_3853-2538dupAAAAAAAAAAAAAAAAAAAA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789763	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0187 a0187	a0187c0248 a0187c0248	a0187c0248t0001 a0187c0248t0001	a0187c0248t0001g0230 a0187c0248t0001g0230	1	298	0.0034	20	c.100 others(39): Show c.10026+447_10026+466dupCTTTCTTTCTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0035 a0035	a0035c0198 a0035c0198	a0035c0198t0002 a0035c0198t0002	a0035c0198t0002g0143 a0035c0198t0002g0143	1	298	0.0034	20	c.100 others(39): Show c.10026+466_10026+467insCTTTCTTTCTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19084.hp2 NA18939.hp2 NA19084.hp2	a0153 a0175 a0153 a0175	a0153c0131 a0175c0242 a0153c0131 a0175c0242	a0153c0131t0004 a0175c0242t0001 a0153c0131t0004 a0175c0242t0001	a0153c0131t0004g0108 a0175c0242t0001g0129 a0153c0131t0004g0108 a0175c0242t0001g0129	2	298	0.0067	20	c.100 others(39): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0053 a0013c0014t0002g0053	1	298	0.0034	20	c.100 others(39): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(13): Show TCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp1 HG02071.hp1 others(3): Show HG01109.hp2 HG01934.hp1 HG02071.hp1 NA18992.hp1 NA19004.hp1 NA19074.hp1	a0008 a0013 a0045 others(3): Show a0008 a0013 a0045 a0046 a0102 a0136	a0008c0266 a0013c0014 a0045c0096 others(3): Show a0008c0266 a0013c0014 a0045c0096 a0046c0098 a0102c0140 a0136c0136	a0008c0266t0005 a0013c0014t0013 a0045c0096t0002 others(3): Show a0008c0266t0005 a0013c0014t0013 a0045c0096t0002 a0046c0098t0002 a0102c0140t0004 a0136c0136t0001	a0008c0266t0005g0137 a0013c0014t0013g0047 a0045c0096t0002g0066 others(3): Show a0008c0266t0005g0137 a0013c0014t0013g0047 a0045c0096t0002g0066 a0046c0098t0002g0106 a0102c0140t0004g0050 a0136c0136t0001g0239	6	298	0.0201	20	c.100 others(39): Show c.10026+466_10026+467insCTTTCTTTTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTTTT others(13): Show TCTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01258.hp1 others(10): Show HG00323.hp1 HG00642.hp1 HG01258.hp1 HG01934.hp2 HG02976.hp1 HG02976.hp2 HG03490.hp2 NA18942.hp1 NA18942.hp2 NA18965.hp2 NA18970.hp2 NA19011.hp2 NA19091.hp2	a0009 a0014 a0016 others(8): Show a0009 a0014 a0016 a0063 a0066 a0077 a0090 a0110 a0125 a0160 a0183	a0009c0217 a0009c0270 a0014c0007 others(9): Show a0009c0217 a0009c0270 a0014c0007 a0016c0268 a0063c0030 a0066c0041 a0077c0139 a0090c0108 a0110c0103 a0125c0086 a0160c0240 a0183c0211	a0009c0217t0001 a0009c0270t0006 a0014c0007t0003 others(9): Show a0009c0217t0001 a0009c0270t0006 a0014c0007t0003 a0016c0268t0002 a0063c0030t0004 a0066c0041t0004 a0077c0139t0003 a0090c0108t0004 a0110c0103t0001 a0125c0086t0001 a0160c0240t0004 a0183c0211t0012	a0009c0217t0001g0182 a0009c0270t0006g0148 a0014c0007t0003g0288 others(10): Show a0009c0217t0001g0182 a0009c0270t0006g0148 a0014c0007t0003g0288 a0014c0007t0003g0289 a0016c0268t0002g0150 a0063c0030t0004g0254 a0066c0041t0004g0274 a0077c0139t0003g0279 a0090c0108t0004g0068 a0110c0103t0001g0095 a0125c0086t0001g0033 a0160c0240t0004g0132 a0183c0211t0012g0232	13	298	0.0436	20	c.100 others(39): Show c.10026+466_10026+467insCTTTTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp1 HG02886.hp1 HG00408.hp2 HG02083.hp1 HG02886.hp1	a0004 a0028 a0065 a0004 a0028 a0065	a0004c0054 a0028c0061 a0065c0047 a0004c0054 a0028c0061 a0065c0047	a0004c0054t0002 a0028c0061t0003 a0065c0047t0001 a0004c0054t0002 a0028c0061t0003 a0065c0047t0001	a0004c0054t0002g0063 a0028c0061t0003g0286 a0065c0047t0001g0114 a0004c0054t0002g0063 a0028c0061t0003g0286 a0065c0047t0001g0114	3	298	0.0101	20	c.100 others(39): Show c.10026+492_10026+511dupTTCTTTCTTTCTTTCTTTCT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21901934	T T	TTGGCCTG others(13): Show TTGGCCTGGAGTGAGTTACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0120 a0120	a0120c0058 a0120c0058	a0120c0058t0022 a0120c0058t0022	a0120c0058t0022g0002 a0120c0058t0022g0002	1	298	0.0034	20	c.68 others(29): Show c.680_*681insTGGCCTGGAGTGAGTTACTG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding		96		chr7	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	266	0.0038	20	c.936 others(39): Show c.9360+2130_9360+2149dupTATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57427138	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0062 a0029c0039t0001g0062	1	266	0.0038	20	c.525 others(39): Show c.5253+1475_5253+1494dupCACACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	34/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02735.hp1 HG02965.hp1 HG02559.hp1 HG02735.hp1 HG02965.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0011 a0001c0001 a0018c0011	a0001c0001t0001 a0018c0011t0001 a0001c0001t0001 a0018c0011t0001	a0001c0001t0001g0208 a0001c0001t0001g0254 a0018c0011t0001g0090 a0001c0001t0001g0208 a0001c0001t0001g0254 a0018c0011t0001g0090	3	266	0.0113	20	c.133 others(39): Show c.1335+1673_1335+1674insATTTTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02809.hp1 HG02886.hp1	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0001 a0013c0009t0001	a0013c0009t0001g0111 a0013c0009t0001g0115 a0013c0009t0001g0111 a0013c0009t0001g0115	2	266	0.0075	20	c.133 others(39): Show c.1335+1673_1335+1674insATATATATTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225034515	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG01975.hp1 others(10): Show HG01123.hp1 HG01255.hp1 HG01975.hp1 HG02071.hp1 HG02293.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18964.hp1 NA18991.hp1 NA18999.hp1 NA19060.hp1 NA19085.hp1	a0002 a0004 a0022 others(3): Show a0002 a0004 a0022 a0027 a0049 a0050	a0002c0003 a0004c0004 a0022c0023 others(3): Show a0002c0003 a0004c0004 a0022c0023 a0027c0026 a0049c0070 a0050c0069	a0002c0003t0001 a0002c0003t0002 a0004c0004t0001 others(4): Show a0002c0003t0001 a0002c0003t0002 a0004c0004t0001 a0022c0023t0001 a0027c0026t0001 a0049c0070t0001 a0050c0069t0001	a0002c0003t0001g0048 a0002c0003t0001g0062 a0002c0003t0001g0063 others(10): Show a0002c0003t0001g0048 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0084 a0002c0003t0002g0072 a0004c0004t0001g0039 a0004c0004t0001g0074 a0022c0023t0001g0040 a0027c0026t0001g0082 a0049c0070t0001g0051 a0050c0069t0001g0057	13	240	0.0542	20	c.135 others(39): Show c.1359-4163_1359-4144dupGTGTGTGTGTGTGTGTGTGT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225082171	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00621.hp1 others(9): Show HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG03195.hp1 NA18612.hp1 NA18941.hp1 NA18946.hp2 NA19003.hp1 NA19060.hp2 NA19066.hp2 NA19085.hp2	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0077 a0095 a0102	a0001c0001 a0001c0008 a0003c0002 others(4): Show a0001c0001 a0001c0008 a0003c0002 a0009c0125 a0077c0115 a0095c0105 a0102c0092	a0001c0001t0001 a0001c0008t0001 a0001c0008t0002 others(5): Show a0001c0001t0001 a0001c0008t0001 a0001c0008t0002 a0003c0002t0001 a0009c0125t0001 a0077c0115t0001 a0095c0105t0001 a0102c0092t0001	a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0008t0001g0151 others(9): Show a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0008t0001g0151 a0001c0008t0001g0152 a0001c0008t0001g0155 a0001c0008t0001g0202 a0001c0008t0002g0154 a0003c0002t0001g0114 a0009c0125t0001g0213 a0077c0115t0001g0166 a0095c0105t0001g0128 a0102c0092t0001g0165	12	240	0.0500	20	c.313 others(37): Show c.3137-370_3137-351dupTGTGTGTGTGTGTGTGTGTG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	19/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335826	T T	TATGTACA others(13): Show TATGTACATATATACATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 NA18906.hp1 HG02572.hp2 HG02723.hp1 NA18906.hp1	a0020 a0066 a0020 a0066	a0020c0019 a0020c0037 a0066c0053 a0020c0019 a0020c0037 a0066c0053	a0020c0019t0001 a0020c0037t0001 a0066c0053t0001 a0020c0019t0001 a0020c0037t0001 a0066c0053t0001	a0020c0019t0001g0101 a0020c0037t0001g0104 a0066c0053t0001g0007 a0020c0019t0001g0101 a0020c0037t0001g0104 a0066c0053t0001g0007	3	240	0.0125	20	c.100 others(41): Show c.10081-1428_10081-1427insACATACACATGTACATATAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335837	A A	ATACATAC others(13): Show ATACATACACATGTACATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01081.hp2 others(23): Show HG00558.hp1 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01261.hp1 HG01358.hp2 HG02004.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG03239.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18941.hp1 NA18946.hp2 NA18964.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2	a0001 a0006 a0028 others(6): Show a0001 a0006 a0028 a0031 a0037 a0052 a0053 a0081 a0102	a0001c0001 a0001c0008 a0006c0006 others(7): Show a0001c0001 a0001c0008 a0006c0006 a0028c0032 a0031c0027 a0037c0121 a0052c0065 a0053c0064 a0081c0114 a0102c0092	a0001c0001t0001 a0001c0008t0001 a0001c0008t0002 others(8): Show a0001c0001t0001 a0001c0008t0001 a0001c0008t0002 a0006c0006t0001 a0028c0032t0001 a0031c0027t0001 a0037c0121t0001 a0052c0065t0001 a0053c0064t0001 a0081c0114t0001 a0102c0092t0001	a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0158 others(23): Show a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0234 a0001c0008t0001g0151 a0001c0008t0001g0152 a0001c0008t0001g0155 a0001c0008t0001g0202 a0001c0008t0002g0154 a0006c0006t0001g0109 a0028c0032t0001g0126 a0028c0032t0001g0209 a0031c0027t0001g0139 a0037c0121t0001g0091 a0052c0065t0001g0055 a0053c0064t0001g0036 a0081c0114t0001g0135 a0102c0092t0001g0165	26	240	0.1083	20	c.100 others(41): Show c.10081-1428_10081-1427insACATACACATGTACATATGT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225374145	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp1 others(18): Show HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01258.hp2 HG02071.hp1 HG02622.hp1 HG02895.hp2 HG03139.hp1 HG04199.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18955.hp2 NA18964.hp2 NA18984.hp1 NA18999.hp2 NA19043.hp1 NA19066.hp1 NA19079.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0015 a0023 a0029 a0031 a0043 a0046 a0050 a0054 a0075 a0086	a0001c0001 a0002c0003 a0002c0025 others(16): Show a0001c0001 a0002c0003 a0002c0025 a0003c0002 a0004c0004 a0005c0041 a0007c0048 a0008c0007 a0014c0013 a0015c0012 a0023c0022 a0029c0033 a0031c0027 a0043c0075 a0046c0063 a0050c0069 a0054c0067 a0075c0116 a0086c0112	a0001c0001t0001 a0002c0003t0001 a0002c0025t0002 others(16): Show a0001c0001t0001 a0002c0003t0001 a0002c0025t0002 a0003c0002t0001 a0004c0004t0001 a0005c0041t0001 a0007c0048t0001 a0008c0007t0001 a0014c0013t0001 a0015c0012t0001 a0023c0022t0001 a0029c0033t0001 a0031c0027t0001 a0043c0075t0001 a0046c0063t0001 a0050c0069t0001 a0054c0067t0001 a0075c0116t0001 a0086c0112t0001	a0001c0001t0001g0170 a0002c0003t0001g0059 a0002c0025t0002g0042 others(18): Show a0001c0001t0001g0170 a0002c0003t0001g0059 a0002c0025t0002g0042 a0003c0002t0001g0110 a0003c0002t0001g0113 a0003c0002t0001g0217 a0004c0004t0001g0039 a0005c0041t0001g0125 a0007c0048t0001g0008 a0008c0007t0001g0003 a0014c0013t0001g0226 a0015c0012t0001g0002 a0023c0022t0001g0038 a0029c0033t0001g0162 a0031c0027t0001g0139 a0043c0075t0001g0018 a0046c0063t0001g0067 a0050c0069t0001g0057 a0054c0067t0001g0046 a0075c0116t0001g0190 a0086c0112t0001g0153	21	240	0.0875	20	c.123 others(39): Show c.12319-524_12319-505dupTATATATATATATATATATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	77/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78460321	C C	CGTGCATG others(13): Show CGTGCATGTGTGTGCATGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(83): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA19043.hp1 NA19062.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(54): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0018 a0019 a0021 a0022 a0023 a0030 a0033 a0034 a0035 a0039 a0040 a0041 a0042 a0045 a0047 a0050 a0055 a0056 a0057 a0058 a0060 a0065 a0067 a0069 a0077 a0079 a0080 a0082 a0085 a0089 a0090 a0093 a0097 a0111 a0112 a0117 a0120 a0122 a0123 a0124 a0126 a0134 a0140 a0143 a0146 a0147 a0148	a0001c0002 a0001c0031 a0001c0058 others(78): Show a0001c0002 a0001c0031 a0001c0058 a0001c0063 a0001c0105 a0001c0110 a0001c0128 a0001c0132 a0001c0138 a0002c0003 a0002c0087 a0002c0089 a0002c0094 a0002c0178 a0002c0179 a0002c0182 a0002c0230 a0003c0014 a0003c0044 a0003c0083 a0004c0011 a0005c0067 a0005c0120 a0006c0165 a0006c0168 a0007c0004 a0007c0150 a0007c0223 a0008c0054 a0008c0060 a0008c0071 a0010c0090 a0012c0166 a0018c0039 a0019c0080 a0021c0033 a0021c0228 a0022c0023 a0023c0016 a0030c0162 a0033c0074 a0034c0073 a0035c0104 a0039c0121 a0040c0187 a0041c0122 a0042c0123 a0045c0220 a0047c0219 a0050c0170 a0055c0134 a0056c0112 a0057c0042 a0058c0127 a0060c0065 a0065c0068 a0067c0056 a0069c0057 a0077c0143 a0079c0173 a0080c0076 a0082c0174 a0085c0206 a0089c0086 a0090c0095 a0093c0181 a0097c0098 a0111c0164 a0112c0184 a0117c0156 a0120c0147 a0122c0198 a0123c0155 a0124c0154 a0126c0152 a0134c0034 a0140c0225 a0143c0015 a0146c0026 a0147c0024 a0148c0025	a0001c0002t0001 a0001c0031t0001 a0001c0058t0001 others(78): Show a0001c0002t0001 a0001c0031t0001 a0001c0058t0001 a0001c0063t0001 a0001c0105t0001 a0001c0110t0001 a0001c0128t0001 a0001c0132t0001 a0001c0138t0001 a0002c0003t0001 a0002c0087t0001 a0002c0089t0001 a0002c0094t0001 a0002c0178t0001 a0002c0179t0001 a0002c0182t0001 a0002c0230t0001 a0003c0014t0001 a0003c0044t0001 a0003c0083t0001 a0004c0011t0001 a0005c0067t0001 a0005c0120t0001 a0006c0165t0001 a0006c0168t0001 a0007c0004t0001 a0007c0150t0001 a0007c0223t0001 a0008c0054t0001 a0008c0060t0001 a0008c0071t0002 a0010c0090t0001 a0012c0166t0001 a0018c0039t0001 a0019c0080t0001 a0021c0033t0001 a0021c0228t0001 a0022c0023t0001 a0023c0016t0001 a0030c0162t0002 a0033c0074t0001 a0034c0073t0001 a0035c0104t0001 a0039c0121t0001 a0040c0187t0002 a0041c0122t0001 a0042c0123t0001 a0045c0220t0001 a0047c0219t0001 a0050c0170t0001 a0055c0134t0001 a0056c0112t0001 a0057c0042t0001 a0058c0127t0001 a0060c0065t0001 a0065c0068t0001 a0067c0056t0001 a0069c0057t0001 a0077c0143t0001 a0079c0173t0001 a0080c0076t0002 a0082c0174t0002 a0085c0206t0006 a0089c0086t0001 a0090c0095t0001 a0093c0181t0001 a0097c0098t0001 a0111c0164t0003 a0112c0184t0003 a0117c0156t0002 a0120c0147t0001 a0122c0198t0001 a0123c0155t0002 a0124c0154t0001 a0126c0152t0001 a0134c0034t0001 a0140c0225t0001 a0143c0015t0002 a0146c0026t0002 a0147c0024t0001 a0148c0025t0001	a0001c0002t0001g0205 a0001c0031t0001g0163 a0001c0058t0001g0240 others(83): Show a0001c0002t0001g0205 a0001c0031t0001g0163 a0001c0058t0001g0240 a0001c0063t0001g0155 a0001c0105t0001g0053 a0001c0110t0001g0210 a0001c0128t0001g0233 a0001c0132t0001g0057 a0001c0138t0001g0226 a0002c0003t0001g0044 a0002c0003t0001g0174 a0002c0003t0001g0221 a0002c0087t0001g0017 a0002c0089t0001g0037 a0002c0094t0001g0173 a0002c0178t0001g0150 a0002c0179t0001g0151 a0002c0182t0001g0243 a0002c0230t0001g0187 a0003c0014t0001g0014 a0003c0014t0001g0015 a0003c0044t0001g0106 a0003c0083t0001g0152 a0004c0011t0001g0027 a0004c0011t0001g0028 a0005c0067t0001g0042 a0005c0120t0001g0231 a0006c0165t0001g0202 a0006c0168t0001g0171 a0007c0004t0001g0185 a0007c0004t0001g0203 a0007c0150t0001g0048 a0007c0223t0001g0121 a0008c0054t0001g0192 a0008c0060t0001g0207 a0008c0071t0002g0200 a0010c0090t0001g0039 a0012c0166t0001g0047 a0018c0039t0001g0212 a0019c0080t0001g0112 a0021c0033t0001g0195 a0021c0228t0001g0016 a0022c0023t0001g0023 a0023c0016t0001g0010 a0030c0162t0002g0033 a0033c0074t0001g0005 a0034c0073t0001g0074 a0035c0104t0001g0183 a0039c0121t0001g0036 a0040c0187t0002g0168 a0041c0122t0001g0227 a0042c0123t0001g0224 a0045c0220t0001g0126 a0047c0219t0001g0122 a0050c0170t0001g0206 a0055c0134t0001g0181 a0056c0112t0001g0072 a0057c0042t0001g0165 a0058c0127t0001g0090 a0060c0065t0001g0216 a0065c0068t0001g0198 a0067c0056t0001g0070 a0069c0057t0001g0164 a0077c0143t0001g0232 a0079c0173t0001g0244 a0080c0076t0002g0197 a0082c0174t0002g0153 a0085c0206t0006g0064 a0089c0086t0001g0238 a0090c0095t0001g0084 a0093c0181t0001g0234 a0097c0098t0001g0104 a0111c0164t0003g0247 a0112c0184t0003g0252 a0117c0156t0002g0161 a0120c0147t0001g0021 a0122c0198t0001g0235 a0123c0155t0002g0029 a0124c0154t0001g0087 a0126c0152t0001g0030 a0134c0034t0001g0228 a0140c0225t0001g0006 a0143c0015t0002g0077 a0146c0026t0002g0190 a0147c0024t0001g0186 a0148c0025t0001g0241	86	252	0.3413	20	c.934 others(35): Show c.9340-84_9340-65dupACACATGCACACACATGCAC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	58/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78460359	T T	TGTGTGCA others(13): Show TGTGTGCATGTGTGTGCATGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0094 a0094	a0094c0093 a0094c0093	a0094c0093t0001 a0094c0093t0001	a0094c0093t0001g0089 a0094c0093t0001g0089	1	252	0.0040	20	c.934 others(37): Show c.9340-103_9340-102insGCATGCACACACATGCACAC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	58/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78540447	A A	ATGGATGG others(13): Show ATGGATGGGTGGGTGGATGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(40): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01943.hp2 HG01981.hp1 HG02071.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18964.hp1 NA18979.hp1 NA18984.hp2 NA19066.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0003 a0004 others(24): Show a0001 a0003 a0004 a0005 a0008 a0011 a0015 a0019 a0027 a0029 a0052 a0055 a0058 a0061 a0064 a0066 a0072 a0073 a0074 a0076 a0097 a0098 a0130 a0134 a0143 a0147 a0148	a0001c0001 a0001c0008 a0001c0040 others(35): Show a0001c0001 a0001c0008 a0001c0040 a0001c0110 a0001c0111 a0001c0126 a0001c0128 a0001c0130 a0001c0131 a0001c0132 a0001c0188 a0003c0014 a0004c0081 a0004c0199 a0005c0120 a0008c0129 a0011c0007 a0015c0135 a0019c0080 a0027c0028 a0029c0201 a0052c0124 a0055c0134 a0058c0127 a0061c0133 a0064c0115 a0066c0137 a0072c0215 a0073c0107 a0074c0106 a0076c0221 a0097c0098 a0098c0097 a0130c0160 a0134c0034 a0143c0015 a0147c0024 a0148c0025	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0001c0040t0001 a0001c0110t0001 a0001c0111t0001 a0001c0126t0001 a0001c0128t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0188t0001 a0003c0014t0001 a0004c0081t0001 a0004c0199t0002 a0005c0120t0001 a0008c0129t0001 a0011c0007t0002 a0015c0135t0001 a0019c0080t0001 a0027c0028t0001 a0029c0201t0001 a0052c0124t0001 a0055c0134t0001 a0058c0127t0001 a0061c0133t0003 a0064c0115t0003 a0066c0137t0002 a0072c0215t0001 a0073c0107t0001 a0074c0106t0001 a0076c0221t0001 a0097c0098t0001 a0098c0097t0001 a0130c0160t0002 a0134c0034t0001 a0143c0015t0002 a0147c0024t0001 a0148c0025t0001	a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0188 others(40): Show a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0003g0249 a0001c0008t0001g0225 a0001c0040t0001g0054 a0001c0110t0001g0210 a0001c0111t0001g0069 a0001c0126t0001g0056 a0001c0128t0001g0233 a0001c0130t0001g0175 a0001c0131t0001g0041 a0001c0132t0001g0057 a0001c0188t0001g0060 a0003c0014t0001g0014 a0003c0014t0001g0015 a0004c0081t0001g0024 a0004c0199t0002g0141 a0005c0120t0001g0231 a0008c0129t0001g0162 a0011c0007t0002g0045 a0011c0007t0002g0130 a0015c0135t0001g0180 a0019c0080t0001g0112 a0027c0028t0001g0116 a0029c0201t0001g0140 a0052c0124t0001g0211 a0055c0134t0001g0181 a0058c0127t0001g0090 a0061c0133t0003g0248 a0064c0115t0003g0250 a0066c0137t0002g0085 a0072c0215t0001g0100 a0073c0107t0001g0143 a0074c0106t0001g0103 a0076c0221t0001g0139 a0097c0098t0001g0104 a0098c0097t0001g0105 a0130c0160t0002g0115 a0134c0034t0001g0228 a0143c0015t0002g0077 a0147c0024t0001g0186 a0148c0025t0001g0241	43	252	0.1706	20	c.253 others(37): Show c.2533-568_2533-567insCCCATCCACCCACCCATCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78540447	A A	ATGGGTGG others(13): Show ATGGGTGGGTGGGTGGATGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18971.hp2 HG02071.hp2 NA18971.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0203 a0007c0004t0001g0204 a0007c0004t0001g0203 a0007c0004t0001g0204	2	252	0.0079	20	c.253 others(37): Show c.2533-568_2533-567insCCCATCCACCCACCCACCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78540899	G G	GTGGGTGG others(13): Show GTGGGTGGGTGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0069 a0069	a0069c0057 a0069c0057	a0069c0057t0001 a0069c0057t0001	a0069c0057t0001g0164 a0069c0057t0001g0164	1	252	0.0040	20	c.253 others(39): Show c.2533-1039_2533-1020dupTCCACCCACCCACCCACCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG03017.hp1 others(2): Show HG02723.hp1 HG02976.hp2 HG03017.hp1 NA18522.hp1 NA18964.hp2	a0003 a0026 a0087 others(2): Show a0003 a0026 a0087 a0091 a0093	a0003c0085 a0026c0019 a0087c0229 others(2): Show a0003c0085 a0026c0019 a0087c0229 a0091c0214 a0093c0181	a0003c0085t0001 a0026c0019t0001 a0087c0229t0002 others(2): Show a0003c0085t0001 a0026c0019t0001 a0087c0229t0002 a0091c0214t0001 a0093c0181t0001	a0003c0085t0001g0022 a0026c0019t0001g0127 a0087c0229t0002g0008 others(2): Show a0003c0085t0001g0022 a0026c0019t0001g0127 a0087c0229t0002g0008 a0091c0214t0001g0137 a0093c0181t0001g0234	5	252	0.0198	20	c.239 others(37): Show c.2392-823_2392-804dupTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7714124	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG02004.hp2 others(9): Show HG00140.hp1 HG00423.hp2 HG02004.hp2 HG02056.hp1 HG02735.hp2 HG02922.hp1 HG03831.hp1 NA18950.hp2 NA18954.hp1 NA18977.hp2 NA18994.hp1 NA19056.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0012 a0013 a0044	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0053 a0002c0003 a0002c0031 a0005c0093 a0012c0011 a0013c0121 a0044c0086	a0001c0001t0002 a0001c0005t0002 a0001c0006t0002 others(8): Show a0001c0001t0002 a0001c0005t0002 a0001c0006t0002 a0001c0053t0001 a0002c0003t0005 a0002c0031t0002 a0005c0093t0001 a0012c0011t0001 a0012c0011t0002 a0013c0121t0001 a0044c0086t0002	a0001c0001t0002g0002 a0001c0001t0002g0053 a0001c0005t0002g0055 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0053 a0001c0005t0002g0055 a0001c0006t0002g0315 a0001c0053t0001g0098 a0002c0003t0005g0064 a0002c0031t0002g0075 a0005c0093t0001g0118 a0012c0011t0001g0122 a0012c0011t0002g0016 a0013c0121t0001g0087 a0044c0086t0002g0047	12	316	0.0380	20	c.-46 others(31): Show c.-4690_-4689insGTGTGTGTGTGTGTGTGTGT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		3619		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725425	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG01884.hp1 HG02109.hp2	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0003 a0030c0030t0003	a0030c0030t0003g0302 a0030c0030t0003g0305 a0030c0030t0003g0302 a0030c0030t0003g0305	2	316	0.0063	20	c.229 others(37): Show c.229-1681_229-1680insATATATATATATATATATAT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741232	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0139 a0001c0139	a0001c0139t0001 a0001c0139t0001	a0001c0139t0001g0220 a0001c0139t0001g0220	1	316	0.0032	20	c.168 others(37): Show c.1689+243_1689+244insTTCTTTCTTTCTTTCTTTCT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741236	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0225 a0002c0045t0001g0225	1	316	0.0032	20	c.168 others(37): Show c.1689+285_1689+304dupTCTTTCTTTCTTTCTTTCTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741295	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01928.hp2 HG02165.hp2 others(2): Show HG00639.hp2 HG01928.hp2 HG02165.hp2 NA18948.hp2 NA19068.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0091 a0003c0004 others(1): Show a0001c0001 a0001c0091 a0003c0004 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0091t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0091t0002 a0003c0004t0001 a0009c0012t0001	a0001c0001t0001g0137 a0001c0001t0002g0059 a0001c0091t0002g0021 others(2): Show a0001c0001t0001g0137 a0001c0001t0002g0059 a0001c0091t0002g0021 a0003c0004t0001g0212 a0009c0012t0001g0094	5	316	0.0158	20	c.168 others(37): Show c.1689+304_1689+305insTCTTTCTTTCTTCCCTCCCT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741303	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp1 HG02293.hp2 others(2): Show HG00423.hp1 HG02132.hp1 HG02293.hp2 NA18942.hp2 NA19004.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0023	a0001c0005 a0003c0004 a0007c0019 others(1): Show a0001c0005 a0003c0004 a0007c0019 a0023c0141	a0001c0005t0001 a0003c0004t0001 a0007c0019t0003 others(1): Show a0001c0005t0001 a0003c0004t0001 a0007c0019t0003 a0023c0141t0001	a0001c0005t0001g0083 a0001c0005t0001g0136 a0003c0004t0001g0149 others(2): Show a0001c0005t0001g0083 a0001c0005t0001g0136 a0003c0004t0001g0149 a0007c0019t0003g0309 a0023c0141t0001g0123	5	316	0.0158	20	c.168 others(37): Show c.1689+314_1689+315insTTCCTTCCCTCCCTCCCTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741323	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0127 a0001c0127	a0001c0127t0002 a0001c0127t0002	a0001c0127t0002g0082 a0001c0127t0002g0082	1	316	0.0032	20	c.168 others(37): Show c.1689+334_1689+335insCTCCCTCCCTCCCTCCTTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741323	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02738.hp1 HG03831.hp1 others(7): Show HG00558.hp1 HG02738.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18522.hp2 NA18946.hp1 NA18984.hp2 NA19002.hp1 NA19062.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0011 a0020 a0043 a0070	a0001c0001 a0001c0006 a0002c0007 others(7): Show a0001c0001 a0001c0006 a0002c0007 a0005c0093 a0005c0097 a0011c0087 a0020c0035 a0020c0055 a0043c0088 a0070c0057	a0001c0001t0002 a0001c0006t0001 a0002c0007t0002 others(7): Show a0001c0001t0002 a0001c0006t0001 a0002c0007t0002 a0005c0093t0001 a0005c0097t0002 a0011c0087t0001 a0020c0035t0002 a0020c0055t0002 a0043c0088t0002 a0070c0057t0002	a0001c0001t0002g0044 a0001c0006t0001g0091 a0002c0007t0002g0018 others(7): Show a0001c0001t0002g0044 a0001c0006t0001g0091 a0002c0007t0002g0018 a0005c0093t0001g0118 a0005c0097t0002g0037 a0011c0087t0001g0181 a0020c0035t0002g0004 a0020c0055t0002g0022 a0043c0088t0002g0034 a0070c0057t0002g0056	10	316	0.0317	20	c.168 others(37): Show c.1689+334_1689+335insCTCCCTCCCTCCTTCCTTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741323	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01952.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG01952.hp2 HG02922.hp2	a0002 a0048 a0054 a0002 a0048 a0054	a0002c0007 a0048c0080 a0054c0116 a0002c0007 a0048c0080 a0054c0116	a0002c0007t0001 a0048c0080t0002 a0054c0116t0001 a0002c0007t0001 a0048c0080t0002 a0054c0116t0001	a0002c0007t0001g0166 a0002c0007t0001g0167 a0048c0080t0002g0017 others(1): Show a0002c0007t0001g0166 a0002c0007t0001g0167 a0048c0080t0002g0017 a0054c0116t0001g0159	4	316	0.0127	20	c.168 others(37): Show c.1689+334_1689+335insCTCCCTCCTTCCTTCCTTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7741323	C C	CTCCCTCC others(13): Show CTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02040.hp1 HG02615.hp2 others(1): Show HG01081.hp2 HG02040.hp1 HG02615.hp2 HG03486.hp2	a0002 a0004 a0026 others(1): Show a0002 a0004 a0026 a0047	a0002c0003 a0004c0008 a0026c0083 others(1): Show a0002c0003 a0004c0008 a0026c0083 a0047c0077	a0002c0003t0001 a0004c0008t0004 a0026c0083t0001 others(1): Show a0002c0003t0001 a0004c0008t0004 a0026c0083t0001 a0047c0077t0001	a0002c0003t0001g0130 a0004c0008t0004g0198 a0026c0083t0001g0151 others(1): Show a0002c0003t0001g0130 a0004c0008t0004g0198 a0026c0083t0001g0151 a0047c0077t0001g0240	4	316	0.0127	20	c.168 others(37): Show c.1689+334_1689+335insCTCCTTCCTTCCTTCCTTCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	11/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7752160	T T	TACACACA others(13): Show TACACACACTCACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01192.hp2 others(23): Show HG00140.hp1 HG01099.hp2 HG01192.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03492.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18968.hp2 NA19056.hp1 NA19056.hp2 NA20805.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0015 a0016 a0018 a0022 a0023 a0026 a0044 a0048 a0061 a0062 a0065 a0066	a0001c0001 a0001c0021 a0001c0028 others(20): Show a0001c0001 a0001c0021 a0001c0028 a0001c0049 a0001c0084 a0002c0031 a0003c0123 a0004c0025 a0005c0130 a0006c0082 a0008c0026 a0015c0013 a0016c0023 a0018c0129 a0022c0118 a0023c0137 a0026c0110 a0044c0086 a0048c0080 a0061c0073 a0062c0072 a0065c0066 a0066c0068	a0001c0001t0002 a0001c0021t0001 a0001c0028t0004 others(20): Show a0001c0001t0002 a0001c0021t0001 a0001c0028t0004 a0001c0049t0002 a0001c0084t0002 a0002c0031t0002 a0003c0123t0009 a0004c0025t0001 a0005c0130t0001 a0006c0082t0002 a0008c0026t0002 a0015c0013t0001 a0016c0023t0001 a0018c0129t0003 a0022c0118t0001 a0023c0137t0001 a0026c0110t0003 a0044c0086t0002 a0048c0080t0002 a0061c0073t0007 a0062c0072t0007 a0065c0066t0001 a0066c0068t0001	a0001c0001t0002g0080 a0001c0021t0001g0236 a0001c0028t0004g0233 others(23): Show a0001c0001t0002g0080 a0001c0021t0001g0236 a0001c0028t0004g0233 a0001c0049t0002g0010 a0001c0084t0002g0065 a0002c0031t0002g0075 a0002c0031t0002g0076 a0003c0123t0009g0143 a0004c0025t0001g0111 a0004c0025t0001g0116 a0005c0130t0001g0215 a0006c0082t0002g0052 a0008c0026t0002g0008 a0015c0013t0001g0088 a0015c0013t0001g0089 a0016c0023t0001g0153 a0018c0129t0003g0295 a0022c0118t0001g0131 a0023c0137t0001g0257 a0026c0110t0003g0284 a0044c0086t0002g0047 a0048c0080t0002g0017 a0061c0073t0007g0168 a0062c0072t0007g0170 a0065c0066t0001g0162 a0066c0068t0001g0189	26	316	0.0823	20	c.190 others(39): Show c.1905-4923_1905-4922insTCACACACACACACACACAC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	12/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7752195	A A	ACACACAC others(13): Show ACACACACACACACACACAAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0005 a0006c0020t0005	a0006c0020t0005g0069 a0006c0020t0005g0069	1	316	0.0032	20	c.190 others(39): Show c.1905-4896_1905-4895insCACACACACACACACACAAC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	12/85			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7815541	C C	CACACACA others(13): Show CACACACATATACAGGATCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0244 a0001c0006t0001g0244	1	316	0.0032	20	c.973 others(38): Show c.9730-1010_9730-991dupTACACACATATACAGGATCA	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	63/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7834636	G G	GGGCGCGG others(13): Show GGGCGCGGCGGGGCGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp1 NA18946.hp1 others(1): Show HG00544.hp2 HG02040.hp1 NA18946.hp1 NA18951.hp2	a0002 a0020 a0002 a0020	a0002c0003 a0002c0007 a0020c0035 a0002c0003 a0002c0007 a0020c0035	a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 others(1): Show a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 a0020c0035t0002	a0002c0003t0001g0130 a0002c0003t0003g0310 a0002c0007t0001g0139 others(1): Show a0002c0003t0001g0130 a0002c0003t0003g0310 a0002c0007t0001g0139 a0020c0035t0002g0004	4	316	0.0127	20	c.11 others(31): Show c.1103_*1104insGGCGCGGCGGGGCGGGGCGC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		895		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7834636	G G	GGGCGGGG others(13): Show GGGCGGGGCGGGGCGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp1 others(33): Show HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG03688.hp2 HG04115.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA19002.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0009 a0024 a0033 a0041	a0001c0001 a0001c0005 a0001c0009 others(13): Show a0001c0001 a0001c0005 a0001c0009 a0001c0021 a0001c0127 a0002c0003 a0002c0007 a0002c0142 a0003c0004 a0003c0123 a0005c0027 a0008c0026 a0009c0012 a0024c0135 a0033c0064 a0041c0089	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0009t0001 a0001c0021t0002 a0001c0127t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0007t0003 a0002c0142t0001 a0003c0004t0001 a0003c0004t0002 a0003c0123t0009 a0005c0027t0001 a0008c0026t0002 a0009c0012t0005 a0024c0135t0001 a0033c0064t0001 a0041c0089t0002	a0001c0001t0001g0137 a0001c0001t0001g0226 a0001c0001t0002g0053 others(33): Show a0001c0001t0001g0137 a0001c0001t0001g0226 a0001c0001t0002g0053 a0001c0005t0002g0055 a0001c0009t0001g0173 a0001c0021t0002g0020 a0001c0127t0002g0082 a0002c0003t0001g0104 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0222 a0002c0003t0002g0045 a0002c0003t0002g0054 a0002c0003t0003g0312 a0002c0003t0005g0064 a0002c0003t0005g0068 a0002c0007t0003g0291 a0002c0007t0003g0297 a0002c0142t0001g0086 a0003c0004t0001g0114 a0003c0004t0001g0120 a0003c0004t0001g0147 a0003c0004t0001g0163 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0224 a0003c0004t0002g0027 a0003c0123t0009g0143 a0005c0027t0001g0144 a0008c0026t0002g0058 a0009c0012t0005g0067 a0024c0135t0001g0150 a0033c0064t0001g0127 a0041c0089t0002g0006	36	316	0.1139	20	c.11 others(31): Show c.1103_*1104insGGCGGGGCGGGGCGGGGCGC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		895		chr17	TogoVar
DNAH3_chr16_20928111_21155846	20984029	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0049 a0013c0017t0001g0049	1	234	0.0043	20	c.755 others(39): Show c.7555+1019_7555+1020insTTTTTTTTTTTTTTTTTTTT	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	48/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02647.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0026 a0004c0027 others(1): Show a0001c0002 a0001c0026 a0004c0027 a0006c0008	a0001c0002t0001 a0001c0026t0001 a0004c0027t0001 others(1): Show a0001c0002t0001 a0001c0026t0001 a0004c0027t0001 a0006c0008t0003	a0001c0002t0001g0202 a0001c0026t0001g0119 a0004c0027t0001g0206 others(1): Show a0001c0002t0001g0202 a0001c0026t0001g0119 a0004c0027t0001g0206 a0006c0008t0003g0001	4	234	0.0171	20	c.563 others(37): Show c.5639-480_5639-479insTATATATATATATATACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0003 a0003c0043t0003	a0003c0043t0003g0002 a0003c0043t0003g0002	1	234	0.0043	20	c.563 others(37): Show c.5639-480_5639-479insTATATATATATATACACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0033 a0033	a0033c0077 a0033c0077	a0033c0077t0001 a0033c0077t0001	a0033c0077t0001g0230 a0033c0077t0001g0230	1	234	0.0043	20	c.563 others(37): Show c.5639-480_5639-479insTATATATATATACACACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19080.hp2 NA18939.hp2 NA19080.hp2	a0004 a0004	a0004c0007 a0004c0081 a0004c0007 a0004c0081	a0004c0007t0002 a0004c0081t0001 a0004c0007t0002 a0004c0081t0001	a0004c0007t0002g0015 a0004c0081t0001g0219 a0004c0007t0002g0015 a0004c0081t0001g0219	2	234	0.0086	20	c.563 others(37): Show c.5639-529_5639-528insAAAAAAAAAATATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18973.hp1 NA19002.hp1 others(3): Show HG00438.hp1 NA18973.hp1 NA19002.hp1 NA19007.hp1 NA19066.hp1 NA19074.hp1	a0004 a0047 a0004 a0047	a0004c0007 a0047c0080 a0004c0007 a0047c0080	a0004c0007t0001 a0047c0080t0001 a0004c0007t0001 a0047c0080t0001	a0004c0007t0001g0169 a0004c0007t0001g0170 a0004c0007t0001g0175 others(3): Show a0004c0007t0001g0169 a0004c0007t0001g0170 a0004c0007t0001g0175 a0004c0007t0001g0218 a0004c0007t0001g0232 a0047c0080t0001g0204	6	234	0.0256	20	c.563 others(37): Show c.5639-529_5639-528insAAAAAAAAAAAATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04184.hp1 HG03490.hp2 HG04184.hp1	a0003 a0025 a0003 a0025	a0003c0043 a0025c0046 a0003c0043 a0025c0046	a0003c0043t0003 a0025c0046t0001 a0003c0043t0003 a0025c0046t0001	a0003c0043t0003g0002 a0025c0046t0001g0087 a0003c0043t0003g0002 a0025c0046t0001g0087	2	234	0.0086	20	c.563 others(37): Show c.5639-529_5639-528insAAAAAAAAAAAAAATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21023784	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0001 a0005c0032t0001	a0005c0032t0001g0078 a0005c0032t0001g0078	1	234	0.0043	20	c.550 others(37): Show c.5508+811_5508+812insACACACACACACACACACAC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	39/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13713434	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0128 a0001c0128	a0001c0128t0005 a0001c0128t0005	a0001c0128t0005g0012 a0001c0128t0005g0012	1	252	0.0040	20	c.131 others(39): Show c.13125+951_13125+970dupATATATATATATATATATAT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	75/78			chr5	TogoVar

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