Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
DNAH17_chr17_78418697_78582396	78479635	A A	AC AC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01106.hp2 HG01175.hp1 others(4): Show HG00621.hp1 HG01106.hp2 HG01175.hp1 HG02055.hp2 HG02109.hp1 HG03098.hp2 NA18964.hp2	a0001 a0003 a0042 others(4): Show a0001 a0003 a0042 a0069 a0093 a0122 a0137	a0001c0002 a0003c0014 a0042c0123 others(4): Show a0001c0002 a0003c0014 a0042c0123 a0069c0057 a0093c0181 a0122c0198 a0137c0197	a0001c0002t0001 a0003c0014t0001 a0042c0123t0001 others(4): Show a0001c0002t0001 a0003c0014t0001 a0042c0123t0001 a0069c0057t0001 a0093c0181t0001 a0122c0198t0001 a0137c0197t0001	a0001c0002t0001g0205 a0003c0014t0001g0015 a0042c0123t0001g0224 others(4): Show a0001c0002t0001g0205 a0003c0014t0001g0015 a0042c0123t0001g0224 a0069c0057t0001g0164 a0093c0181t0001g0234 a0122c0198t0001g0235 a0137c0197t0001g0110	7	252	0.0278	1	c.775 others(7): Show c.7753-4dupG		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	49/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78485764	C C	CAGGGGAG others(3): Show CAGGGGAGGGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG02055.hp1 HG02486.hp1 others(5): Show HG00639.hp1 HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 NA18906.hp1 NA19043.hp2	a0002 a0010 a0019 others(4): Show a0002 a0010 a0019 a0039 a0085 a0092 a0098	a0002c0050 a0010c0091 a0010c0212 others(5): Show a0002c0050 a0010c0091 a0010c0212 a0019c0049 a0039c0121 a0085c0206 a0092c0092 a0098c0097	a0002c0050t0002 a0010c0091t0005 a0010c0212t0001 others(5): Show a0002c0050t0002 a0010c0091t0005 a0010c0212t0001 a0019c0049t0002 a0039c0121t0001 a0085c0206t0006 a0092c0092t0001 a0098c0097t0001	a0002c0050t0002g0004 a0010c0091t0005g0003 a0010c0212t0001g0025 others(5): Show a0002c0050t0002g0004 a0010c0091t0005g0003 a0010c0212t0001g0025 a0019c0049t0002g0144 a0039c0121t0001g0036 a0085c0206t0006g0064 a0092c0092t0001g0134 a0098c0097t0001g0105	8	252	0.0318	10	c.727 others(24): Show c.7276-17_7276-8dupTCCCTCCCCT		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	46/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78486218	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03704.hp1 HG03704.hp1	a0015 a0015	a0015c0135 a0015c0135	a0015c0135t0001 a0015c0135t0001	a0015c0135t0001g0180 a0015c0135t0001g0180	1	252	0.0040	0	c.710 others(6): Show c.7101+6G>A		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	45/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78490855	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01106.hp2	a0122 a0122	a0122c0198 a0122c0198	a0122c0198t0001 a0122c0198t0001	a0122c0198t0001g0235 a0122c0198t0001g0235	1	252	0.0040	0	c.667 others(6): Show c.6670-8C>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	43/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78491576	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	252	0.0040	0	c.654 others(6): Show c.6542-6C>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	42/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78499003	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp1	a0042 a0042	a0042c0123 a0042c0123	a0042c0123t0001 a0042c0123t0001	a0042c0123t0001g0224 a0042c0123t0001g0224	1	252	0.0040	0	c.574 others(6): Show c.5745+5A>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	37/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78506846	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0027 a0085 a0027 a0085	a0027c0028 a0085c0206 a0027c0028 a0085c0206	a0027c0028t0001 a0085c0206t0006 a0027c0028t0001 a0085c0206t0006	a0027c0028t0001g0116 a0085c0206t0006g0064 a0027c0028t0001g0116 a0085c0206t0006g0064	2	252	0.0079	0	c.467 others(4): Show c.4677C>A	p.Ser others(7): Show p.Ser1559Arg	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	30/81	4804/13725	4677/13389	1559/4462	chr17	TogoVar
DNAH17_chr17_78418697_78582396	78507455	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0113 a0113	a0113c0210 a0113c0210	a0113c0210t0001 a0113c0210t0001	a0113c0210t0001g0118 a0113c0210t0001g0118	1	252	0.0040	0	c.458 others(6): Show c.4584+3G>A		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	28/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78532477	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02280.hp1 HG02622.hp1 others(1): Show HG02109.hp2 HG02280.hp1 HG02622.hp1 NA21309.hp1	a0010 a0025 a0094 others(1): Show a0010 a0025 a0094 a0101	a0010c0212 a0025c0017 a0094c0093 others(1): Show a0010c0212 a0025c0017 a0094c0093 a0101c0211	a0010c0212t0001 a0025c0017t0001 a0094c0093t0001 others(1): Show a0010c0212t0001 a0025c0017t0001 a0094c0093t0001 a0101c0211t0001	a0010c0212t0001g0025 a0025c0017t0001g0078 a0094c0093t0001g0089 others(1): Show a0010c0212t0001g0025 a0025c0017t0001g0078 a0094c0093t0001g0089 a0101c0211t0001g0135	4	252	0.0159	0	c.311 others(6): Show c.3114+5G>A		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	20/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78537300	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0001 a0025c0017t0001	a0025c0017t0001g0078 a0025c0017t0001g0078	1	252	0.0040	0	c.285 others(4): Show c.2858A>C	p.Lys others(6): Show p.Lys953Thr	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	19/81	2985/13725	2858/13389	953/4462	chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544004	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG02615.hp2 HG00639.hp1 HG02615.hp2	a0038 a0039 a0038 a0039	a0038c0218 a0039c0121 a0038c0218 a0039c0121	a0038c0218t0001 a0039c0121t0001 a0038c0218t0001 a0039c0121t0001	a0038c0218t0001g0123 a0039c0121t0001g0036 a0038c0218t0001g0123 a0039c0121t0001g0036	2	252	0.0079	0	c.239 others(6): Show c.2392-7C>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78569259	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(75): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02886.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18971.hp2 NA19066.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(50): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0018 a0020 a0024 a0030 a0031 a0035 a0039 a0040 a0048 a0050 a0052 a0054 a0057 a0059 a0062 a0063 a0064 a0065 a0066 a0070 a0073 a0074 a0077 a0084 a0089 a0090 a0093 a0099 a0103 a0105 a0110 a0111 a0112 a0116 a0121 a0122 a0123 a0125 a0128 a0145	a0001c0001 a0001c0002 a0001c0008 others(69): Show a0001c0001 a0001c0002 a0001c0008 a0001c0058 a0001c0059 a0001c0110 a0001c0128 a0001c0169 a0001c0172 a0001c0188 a0002c0094 a0003c0145 a0003c0189 a0004c0176 a0004c0199 a0005c0226 a0006c0010 a0006c0165 a0006c0168 a0007c0004 a0007c0150 a0008c0054 a0008c0060 a0008c0066 a0008c0071 a0010c0091 a0012c0166 a0012c0167 a0013c0012 a0014c0062 a0014c0171 a0015c0136 a0018c0102 a0020c0013 a0024c0018 a0030c0162 a0031c0163 a0035c0104 a0039c0121 a0040c0187 a0048c0117 a0050c0170 a0052c0124 a0054c0125 a0057c0042 a0059c0061 a0062c0069 a0063c0070 a0064c0115 a0065c0068 a0066c0137 a0070c0108 a0073c0107 a0074c0106 a0077c0143 a0084c0043 a0089c0086 a0090c0095 a0093c0181 a0099c0177 a0103c0075 a0105c0175 a0110c0185 a0111c0164 a0112c0184 a0116c0191 a0121c0148 a0122c0198 a0123c0155 a0125c0153 a0128c0190 a0145c0027	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(70): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0001c0058t0001 a0001c0059t0001 a0001c0110t0001 a0001c0128t0001 a0001c0169t0001 a0001c0172t0001 a0001c0188t0001 a0002c0094t0001 a0003c0145t0002 a0003c0189t0001 a0004c0176t0001 a0004c0199t0002 a0005c0226t0002 a0006c0010t0001 a0006c0165t0001 a0006c0168t0001 a0007c0004t0001 a0007c0150t0001 a0008c0054t0001 a0008c0060t0001 a0008c0066t0002 a0008c0071t0002 a0010c0091t0005 a0012c0166t0001 a0012c0167t0001 a0013c0012t0002 a0014c0062t0001 a0014c0171t0001 a0015c0136t0001 a0018c0102t0001 a0020c0013t0001 a0024c0018t0001 a0030c0162t0002 a0031c0163t0001 a0035c0104t0001 a0039c0121t0001 a0040c0187t0002 a0048c0117t0001 a0050c0170t0001 a0052c0124t0001 a0054c0125t0001 a0057c0042t0001 a0059c0061t0003 a0062c0069t0001 a0063c0070t0001 a0064c0115t0003 a0065c0068t0001 a0066c0137t0002 a0070c0108t0001 a0073c0107t0001 a0074c0106t0001 a0077c0143t0001 a0084c0043t0001 a0089c0086t0001 a0090c0095t0001 a0093c0181t0001 a0099c0177t0001 a0103c0075t0001 a0105c0175t0002 a0110c0185t0001 a0111c0164t0003 a0112c0184t0003 a0116c0191t0001 a0121c0148t0001 a0122c0198t0001 a0123c0155t0002 a0125c0153t0001 a0128c0190t0001 a0145c0027t0001	a0001c0001t0003g0249 a0001c0002t0001g0205 a0001c0002t0004g0001 others(75): Show a0001c0001t0003g0249 a0001c0002t0001g0205 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0008t0001g0239 a0001c0058t0001g0240 a0001c0059t0001g0113 a0001c0110t0001g0210 a0001c0128t0001g0233 a0001c0169t0001g0179 a0001c0172t0001g0219 a0001c0188t0001g0060 a0002c0094t0001g0173 a0003c0145t0002g0066 a0003c0189t0001g0199 a0004c0176t0001g0026 a0004c0199t0002g0141 a0005c0226t0002g0079 a0006c0010t0001g0209 a0006c0010t0001g0220 a0006c0165t0001g0202 a0006c0168t0001g0171 a0007c0004t0001g0185 a0007c0004t0001g0203 a0007c0004t0001g0204 a0007c0150t0001g0048 a0008c0054t0001g0192 a0008c0060t0001g0207 a0008c0066t0002g0208 a0008c0071t0002g0200 a0010c0091t0005g0003 a0012c0166t0001g0047 a0012c0167t0001g0094 a0013c0012t0002g0222 a0013c0012t0002g0223 a0014c0062t0001g0193 a0014c0171t0001g0229 a0015c0136t0001g0191 a0018c0102t0001g0196 a0020c0013t0001g0184 a0024c0018t0001g0012 a0030c0162t0002g0033 a0031c0163t0001g0156 a0035c0104t0001g0183 a0039c0121t0001g0036 a0040c0187t0002g0168 a0048c0117t0001g0034 a0050c0170t0001g0206 a0052c0124t0001g0211 a0054c0125t0001g0194 a0057c0042t0001g0165 a0059c0061t0003g0251 a0062c0069t0001g0018 a0063c0070t0001g0019 a0064c0115t0003g0250 a0065c0068t0001g0198 a0066c0137t0002g0085 a0070c0108t0001g0076 a0073c0107t0001g0143 a0074c0106t0001g0103 a0077c0143t0001g0232 a0084c0043t0001g0073 a0089c0086t0001g0238 a0090c0095t0001g0084 a0093c0181t0001g0234 a0099c0177t0001g0245 a0103c0075t0001g0011 a0105c0175t0002g0049 a0110c0185t0001g0157 a0111c0164t0003g0247 a0112c0184t0003g0252 a0116c0191t0001g0158 a0121c0148t0001g0096 a0122c0198t0001g0235 a0123c0155t0002g0029 a0125c0153t0001g0032 a0128c0190t0001g0201 a0145c0027t0001g0031	78	252	0.3095	0	c.119 others(6): Show c.1198-7C>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	8/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78569525	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03471.hp2 NA20129.hp2 HG03471.hp2 NA20129.hp2	a0004 a0024 a0004 a0024	a0004c0199 a0024c0018 a0004c0199 a0024c0018	a0004c0199t0002 a0024c0018t0001 a0004c0199t0002 a0024c0018t0001	a0004c0199t0002g0141 a0024c0018t0001g0012 a0004c0199t0002g0141 a0024c0018t0001g0012	2	252	0.0079	0	c.104 others(4): Show c.1047A>G	p.Thr others(6): Show p.Thr349Thr	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	8/81	1174/13725	1047/13389	349/4462	chr17	TogoVar
DNAH17_chr17_78418697_78582396	78571040	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02922.hp2 HG02895.hp1 HG02922.hp2	a0004 a0100 a0004 a0100	a0004c0103 a0100c0084 a0004c0103 a0100c0084	a0004c0103t0001 a0100c0084t0001 a0004c0103t0001 a0100c0084t0001	a0004c0103t0001g0111 a0100c0084t0001g0177 a0004c0103t0001g0111 a0100c0084t0001g0177	2	252	0.0079	0	c.833 others(5): Show c.833-7C>T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	5/80				chr17	TogoVar
DNAH17_chr17_78418697_78582396	78571762	TTGTCCAG others(21): Show TTGTCCAGTGAAGAGGGGATCCTGCCCAG	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03654.hp2 HG03654.hp2	a0145 a0145	a0145c0027 a0145c0027	a0145c0027t0001 a0145c0027t0001	a0145c0027t0001g0031 a0145c0027t0001g0031	1	252	0.0040	-28	c.540 others(37): Show c.540-8_559delCTGGGCAGGATCCCCTCTTCACTGGACA	p.Ile others(5): Show p.Ile181fs	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	4/81	686/13725	540/13389	180/4462	chr17	TogoVar
DNAH17_chr17_78418697_78582396	78575082	T T	C C	splice_region_variant splice_region_variant	LOW	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0135 a0136 a0135 a0136	a0135c0194 a0136c0193 a0135c0194 a0136c0193	a0135c0194t0007 a0136c0193t0008 a0135c0194t0007 a0136c0193t0008	a0135c0194t0007g0107 a0136c0193t0008g0108 a0135c0194t0007g0107 a0136c0193t0008g0108	2	252	0.0079	0	c.-25 others(3): Show c.-25A>G		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	2/81				chr17	TogoVar
DNAH1_chr3_52311319_52405492	52328017	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp1 NA19056.hp1 NA18612.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	182	0.0110	0	c.871 others(5): Show c.871+3G>A		DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	6/77				chr3	TogoVar
DNAH1_chr3_52311319_52405492	52353380	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0042 a0042	a0042c0023 a0042c0023	a0042c0023t0001 a0042c0023t0001	a0042c0023t0001g0044 a0042c0023t0001g0044	1	182	0.0055	0	c.322 others(4): Show c.3227C>G	p.Ala others(7): Show p.Ala1076Gly	DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	20/78	3488/13105	3227/12798	1076/4265	chr3	TogoVar
DNAH1_chr3_52311319_52405492	52362504	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0014	2	182	0.0110	0	c.509 others(6): Show c.5094+3A>T		DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	31/77				chr3	TogoVar
DNAH1_chr3_52311319_52405492	52370712	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0047 a0006c0008t0001g0047	1	182	0.0055	0	c.641 others(6): Show c.6418-6C>T		DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	40/77				chr3	TogoVar
DNAH1_chr3_52311319_52405492	52375997	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0160 a0001c0005t0001g0160	1	182	0.0055	0	c.719 others(6): Show c.7198+4A>C		DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	46/77				chr3	TogoVar
DNAH1_chr3_52311319_52405492	52390937	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01074.hp1 HG01243.hp2 HG01891.hp2 others(21): Show HG01074.hp1 HG01243.hp2 HG01891.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0007 a0018 others(3): Show a0001 a0007 a0018 a0035 a0039 a0041	a0001c0005 a0001c0010 a0001c0035 others(5): Show a0001c0005 a0001c0010 a0001c0035 a0007c0009 a0018c0022 a0035c0039 a0039c0025 a0041c0057	a0001c0005t0001 a0001c0010t0001 a0001c0035t0001 others(6): Show a0001c0005t0001 a0001c0010t0001 a0001c0035t0001 a0007c0009t0001 a0007c0009t0002 a0018c0022t0001 a0035c0039t0001 a0039c0025t0001 a0041c0057t0001	a0001c0005t0001g0014 a0001c0005t0001g0051 a0001c0005t0001g0054 others(18): Show a0001c0005t0001g0014 a0001c0005t0001g0051 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0148 a0001c0005t0001g0159 a0001c0005t0001g0160 a0001c0010t0001g0015 a0001c0010t0001g0149 a0001c0010t0001g0155 a0001c0035t0001g0053 a0007c0009t0001g0002 a0007c0009t0001g0150 a0007c0009t0001g0151 a0007c0009t0001g0152 a0007c0009t0002g0129 a0018c0022t0001g0052 a0035c0039t0001g0060 a0039c0025t0001g0002 a0041c0057t0001g0002	24	182	0.1319	0	c.962 others(4): Show c.9624C>T	p.Ile others(7): Show p.Ile3208Ile	DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	61/78	9885/13105	9624/12798	3208/4265	chr3	TogoVar
DNAH1_chr3_52311319_52405492	52391445	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18969.hp2 NA18969.hp2	a0014 a0014	a0014c0041 a0014c0041	a0014c0041t0001 a0014c0041t0001	a0014c0041t0001g0114 a0014c0041t0001g0114	1	182	0.0055	0	c.989 others(4): Show c.9894G>A	p.Thr others(7): Show p.Thr3298Thr	DNAH1	ENSG00000114841.18	transcript	ENST00000420323.7	protein_coding	63/78	10155/13105	9894/12798	3298/4265	chr3	TogoVar
DNAH2_chr17_7712744_7838742	7734465	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0297 a0002c0007t0003g0297	1	316	0.0032	0	c.740 others(5): Show c.740-5T>C		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	6/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7734471	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp2 HG02602.hp2 HG03017.hp2 others(8): Show HG00438.hp2 HG02602.hp2 HG03017.hp2 HG03492.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18968.hp1 NA18977.hp1 NA19084.hp1 NA19091.hp1	a0001 a0005 a0008 others(6): Show a0001 a0005 a0008 a0018 a0019 a0023 a0024 a0037 a0038	a0001c0139 a0005c0130 a0008c0138 others(8): Show a0001c0139 a0005c0130 a0008c0138 a0018c0129 a0018c0132 a0019c0133 a0023c0137 a0024c0135 a0024c0136 a0037c0134 a0038c0131	a0001c0139t0001 a0005c0130t0001 a0008c0138t0001 others(8): Show a0001c0139t0001 a0005c0130t0001 a0008c0138t0001 a0018c0129t0003 a0018c0132t0001 a0019c0133t0002 a0023c0137t0001 a0024c0135t0001 a0024c0136t0001 a0037c0134t0001 a0038c0131t0001	a0001c0139t0001g0220 a0005c0130t0001g0215 a0008c0138t0001g0218 others(8): Show a0001c0139t0001g0220 a0005c0130t0001g0215 a0008c0138t0001g0218 a0018c0129t0003g0295 a0018c0132t0001g0219 a0019c0133t0002g0035 a0023c0137t0001g0257 a0024c0135t0001g0150 a0024c0136t0001g0234 a0037c0134t0001g0228 a0038c0131t0001g0221	11	316	0.0348	0	c.741 others(3): Show c.741C>T	p.Thr others(6): Show p.Thr247Thr	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	7/86	1811/14563	741/13284	247/4427	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7771466	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp2 HG00558.hp2 HG00621.hp2 others(19): Show HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02602.hp2 HG02698.hp2 HG03492.hp1 HG03831.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18962.hp1 NA18968.hp1 NA18984.hp2 NA18989.hp1 NA19062.hp1 NA19064.hp2 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20905.hp1	a0005 a0018 a0019 others(8): Show a0005 a0018 a0019 a0023 a0024 a0036 a0037 a0038 a0055 a0063 a0070	a0005c0027 a0005c0093 a0005c0097 others(17): Show a0005c0027 a0005c0093 a0005c0097 a0005c0130 a0018c0094 a0018c0129 a0018c0132 a0019c0095 a0019c0098 a0019c0133 a0023c0137 a0023c0141 a0024c0135 a0024c0136 a0036c0096 a0037c0134 a0038c0131 a0055c0125 a0063c0067 a0070c0057	a0005c0027t0001 a0005c0027t0004 a0005c0093t0001 others(18): Show a0005c0027t0001 a0005c0027t0004 a0005c0093t0001 a0005c0097t0002 a0005c0130t0001 a0018c0094t0001 a0018c0129t0003 a0018c0132t0001 a0019c0095t0005 a0019c0098t0002 a0019c0133t0002 a0023c0137t0001 a0023c0141t0001 a0024c0135t0001 a0024c0136t0001 a0036c0096t0003 a0037c0134t0001 a0038c0131t0001 a0055c0125t0003 a0063c0067t0003 a0070c0057t0002	a0005c0027t0001g0134 a0005c0027t0001g0144 a0005c0027t0004g0195 others(19): Show a0005c0027t0001g0134 a0005c0027t0001g0144 a0005c0027t0004g0195 a0005c0093t0001g0118 a0005c0097t0002g0037 a0005c0130t0001g0215 a0018c0094t0001g0092 a0018c0129t0003g0295 a0018c0132t0001g0219 a0019c0095t0005g0070 a0019c0098t0002g0011 a0019c0133t0002g0035 a0023c0137t0001g0257 a0023c0141t0001g0123 a0024c0135t0001g0150 a0024c0136t0001g0234 a0036c0096t0003g0308 a0037c0134t0001g0228 a0038c0131t0001g0221 a0055c0125t0003g0294 a0063c0067t0003g0272 a0070c0057t0002g0056	22	316	0.0696	0	c.449 others(4): Show c.4499C>T	p.Pro others(7): Show p.Pro1500Leu	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	28/86	5569/14563	4499/13284	1500/4427	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7777637	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02145.hp2 HG02486.hp1 others(10): Show HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG03130.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0015 a0016 a0017 others(2): Show a0015 a0016 a0017 a0034 a0067	a0015c0013 a0016c0023 a0016c0043 others(3): Show a0015c0013 a0016c0023 a0016c0043 a0017c0024 a0034c0071 a0067c0070	a0015c0013t0001 a0016c0023t0001 a0016c0043t0002 others(4): Show a0015c0013t0001 a0016c0023t0001 a0016c0043t0002 a0017c0024t0002 a0017c0024t0003 a0034c0071t0001 a0067c0070t0001	a0015c0013t0001g0088 a0015c0013t0001g0089 a0015c0013t0001g0152 others(10): Show a0015c0013t0001g0088 a0015c0013t0001g0089 a0015c0013t0001g0152 a0015c0013t0001g0241 a0016c0023t0001g0153 a0016c0023t0001g0155 a0016c0023t0001g0157 a0016c0043t0002g0081 a0017c0024t0002g0252 a0017c0024t0002g0253 a0017c0024t0003g0251 a0034c0071t0001g0160 a0067c0070t0001g0250	13	316	0.0411	0	c.524 others(6): Show c.5247+3G>A		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	33/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7797394	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(164): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18968.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(41): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0020 a0021 a0022 a0024 a0026 a0027 a0028 a0031 a0032 a0033 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0048 a0049 a0050 a0051 a0052 a0053 a0056 a0061 a0062 a0064 a0066 a0068 a0069 a0071	a0001c0001 a0001c0002 a0001c0005 others(81): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0021 a0001c0028 a0001c0029 a0001c0049 a0001c0050 a0001c0053 a0001c0063 a0001c0084 a0001c0091 a0001c0127 a0001c0139 a0002c0003 a0002c0007 a0002c0014 a0002c0031 a0002c0038 a0002c0048 a0002c0052 a0002c0054 a0002c0104 a0003c0004 a0003c0033 a0003c0123 a0004c0008 a0004c0025 a0004c0047 a0004c0108 a0005c0093 a0006c0020 a0006c0082 a0007c0019 a0007c0041 a0008c0026 a0008c0036 a0008c0138 a0009c0124 a0010c0017 a0010c0140 a0011c0037 a0011c0075 a0011c0087 a0012c0011 a0014c0051 a0014c0059 a0014c0111 a0020c0035 a0020c0055 a0021c0061 a0021c0113 a0021c0114 a0022c0042 a0024c0135 a0026c0083 a0026c0110 a0027c0112 a0028c0034 a0031c0056 a0032c0062 a0033c0064 a0039c0092 a0040c0090 a0041c0089 a0042c0115 a0043c0088 a0044c0086 a0046c0081 a0048c0080 a0049c0085 a0050c0060 a0051c0107 a0052c0101 a0053c0100 a0056c0122 a0061c0073 a0062c0072 a0064c0069 a0066c0068 a0068c0065 a0069c0128 a0071c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(111): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0003 a0001c0021t0001 a0001c0028t0001 a0001c0029t0001 a0001c0029t0003 a0001c0029t0004 a0001c0049t0002 a0001c0050t0003 a0001c0053t0001 a0001c0063t0001 a0001c0084t0002 a0001c0091t0002 a0001c0127t0002 a0001c0139t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0011 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0014t0001 a0002c0031t0002 a0002c0038t0001 a0002c0048t0001 a0002c0052t0001 a0002c0054t0004 a0002c0104t0002 a0003c0004t0002 a0003c0004t0003 a0003c0033t0001 a0003c0123t0009 a0004c0008t0001 a0004c0008t0003 a0004c0008t0004 a0004c0008t0005 a0004c0008t0008 a0004c0025t0001 a0004c0047t0001 a0004c0108t0003 a0005c0093t0001 a0006c0020t0002 a0006c0020t0005 a0006c0082t0002 a0007c0019t0002 a0007c0019t0003 a0007c0019t0008 a0007c0041t0001 a0008c0026t0002 a0008c0026t0003 a0008c0036t0002 a0008c0138t0001 a0009c0124t0001 a0010c0017t0002 a0010c0017t0003 a0010c0140t0001 a0011c0037t0001 a0011c0037t0003 a0011c0075t0004 a0011c0087t0001 a0012c0011t0001 a0012c0011t0002 a0012c0011t0005 a0014c0051t0001 a0014c0059t0006 a0014c0111t0001 a0020c0035t0002 a0020c0055t0002 a0021c0061t0010 a0021c0113t0002 a0021c0114t0003 a0022c0042t0009 a0024c0135t0001 a0026c0083t0001 a0026c0110t0003 a0027c0112t0002 a0028c0034t0002 a0031c0056t0001 a0032c0062t0003 a0033c0064t0001 a0039c0092t0001 a0040c0090t0001 a0041c0089t0002 a0042c0115t0003 a0043c0088t0002 a0044c0086t0002 a0046c0081t0001 a0048c0080t0002 a0049c0085t0004 a0050c0060t0006 a0051c0107t0003 a0052c0101t0001 a0053c0100t0001 a0056c0122t0001 a0061c0073t0007 a0062c0072t0007 a0064c0069t0003 a0066c0068t0001 a0068c0065t0003 a0069c0128t0002 a0071c0058t0002	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 others(163): Show a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0289 a0001c0002t0002g0061 a0001c0002t0003g0279 a0001c0002t0004g0201 a0001c0002t0004g0208 a0001c0002t0004g0232 a0001c0005t0001g0001 a0001c0005t0001g0083 a0001c0005t0001g0093 a0001c0005t0001g0103 a0001c0005t0001g0106 a0001c0005t0001g0133 a0001c0005t0001g0136 a0001c0005t0002g0055 a0001c0005t0002g0077 a0001c0005t0003g0285 a0001c0005t0004g0202 a0001c0006t0003g0268 a0001c0021t0001g0178 a0001c0028t0001g0117 a0001c0029t0001g0110 a0001c0029t0003g0301 a0001c0029t0004g0197 a0001c0049t0002g0010 a0001c0050t0003g0306 a0001c0053t0001g0098 a0001c0063t0001g0249 a0001c0084t0002g0065 a0001c0091t0002g0021 a0001c0127t0002g0082 a0001c0139t0001g0220 a0002c0003t0001g0104 a0002c0003t0001g0124 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0222 a0002c0003t0002g0045 a0002c0003t0002g0054 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0004g0200 a0002c0003t0005g0068 a0002c0003t0011g0296 a0002c0007t0001g0139 a0002c0007t0001g0166 a0002c0007t0001g0167 a0002c0007t0002g0003 a0002c0007t0002g0009 a0002c0007t0002g0018 a0002c0007t0003g0297 a0002c0007t0004g0196 a0002c0014t0001g0179 a0002c0014t0001g0180 a0002c0031t0002g0075 a0002c0031t0002g0076 a0002c0038t0001g0229 a0002c0038t0001g0237 a0002c0048t0001g0205 a0002c0052t0001g0217 a0002c0054t0004g0194 a0002c0104t0002g0014 a0003c0004t0002g0027 a0003c0004t0003g0278 a0003c0033t0001g0165 a0003c0033t0001g0243 a0003c0123t0009g0143 a0004c0008t0001g0085 a0004c0008t0001g0099 a0004c0008t0001g0112 a0004c0008t0003g0293 a0004c0008t0004g0198 a0004c0008t0005g0063 a0004c0008t0005g0073 a0004c0008t0008g0277 a0004c0025t0001g0111 a0004c0025t0001g0116 a0004c0047t0001g0206 a0004c0108t0003g0287 a0005c0093t0001g0118 a0006c0020t0002g0023 a0006c0020t0002g0025 a0006c0020t0002g0039 a0006c0020t0005g0069 a0006c0082t0002g0052 a0007c0019t0002g0041 a0007c0019t0003g0309 a0007c0019t0003g0313 a0007c0019t0008g0286 a0007c0041t0001g0101 a0007c0041t0001g0105 a0008c0026t0002g0008 a0008c0026t0002g0058 a0008c0026t0003g0283 a0008c0036t0002g0024 a0008c0036t0002g0074 a0008c0138t0001g0218 a0009c0124t0001g0084 a0010c0017t0002g0040 a0010c0017t0002g0042 a0010c0017t0002g0043 a0010c0017t0003g0281 a0010c0140t0001g0100 a0011c0037t0001g0138 a0011c0037t0003g0288 a0011c0075t0004g0203 a0011c0087t0001g0181 a0012c0011t0001g0107 a0012c0011t0001g0122 a0012c0011t0002g0016 a0012c0011t0005g0066 a0012c0011t0005g0072 a0014c0051t0001g0216 a0014c0059t0006g0190 a0014c0111t0001g0238 a0020c0035t0002g0004 a0020c0035t0002g0051 a0020c0055t0002g0022 a0021c0061t0010g0260 a0021c0113t0002g0079 a0021c0114t0003g0304 a0022c0042t0009g0142 a0024c0135t0001g0150 a0026c0083t0001g0151 a0026c0110t0003g0284 a0027c0112t0002g0050 a0028c0034t0002g0005 a0028c0034t0002g0015 a0031c0056t0001g0132 a0032c0062t0003g0255 a0033c0064t0001g0127 a0039c0092t0001g0119 a0040c0090t0001g0096 a0041c0089t0002g0006 a0042c0115t0003g0300 a0043c0088t0002g0034 a0044c0086t0002g0047 a0046c0081t0001g0235 a0048c0080t0002g0017 a0049c0085t0004g0199 a0050c0060t0006g0213 a0051c0107t0003g0280 a0052c0101t0001g0115 a0053c0100t0001g0223 a0056c0122t0001g0095 a0061c0073t0007g0168 a0062c0072t0007g0170 a0064c0069t0003g0267 a0066c0068t0001g0189 a0068c0065t0003g0299 a0069c0128t0002g0049 a0071c0058t0002g0057	167	316	0.5285	0	c.795 others(6): Show c.7950-6C>T		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	51/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7798551	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp2 NA18954.hp2	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0003 a0011c0037t0003	a0011c0037t0003g0288 a0011c0037t0003g0288	1	316	0.0032	0	c.839 others(6): Show c.8399-7C>T		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	54/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7816739	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG01081.hp2 HG01106.hp1 others(16): Show HG00423.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02293.hp1 NA18940.hp1 NA18942.hp1 NA18960.hp2 NA18983.hp1 NA18994.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0005 a0002c0003 others(5): Show a0001c0001 a0001c0005 a0002c0003 a0002c0007 a0004c0008 a0006c0020 a0007c0019 a0007c0041	a0001c0001t0002 a0001c0005t0002 a0001c0005t0003 others(11): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 a0002c0007t0004 a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 a0006c0020t0002 a0007c0019t0002 a0007c0019t0003 a0007c0041t0001	a0001c0001t0002g0002 a0001c0005t0002g0055 a0001c0005t0003g0285 others(16): Show a0001c0001t0002g0002 a0001c0005t0002g0055 a0001c0005t0003g0285 a0002c0003t0001g0104 a0002c0003t0001g0222 a0002c0003t0003g0312 a0002c0003t0011g0296 a0002c0007t0004g0196 a0004c0008t0001g0085 a0004c0008t0001g0099 a0004c0008t0001g0112 a0004c0008t0004g0198 a0004c0008t0005g0073 a0006c0020t0002g0039 a0007c0019t0002g0041 a0007c0019t0003g0309 a0007c0019t0003g0313 a0007c0041t0001g0101 a0007c0041t0001g0105	19	316	0.0601	0	c.989 others(6): Show c.9894+4A>G		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	64/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7817712	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00558.hp2 HG00639.hp2 others(39): Show HG00140.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02148.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02723.hp1 HG02738.hp1 HG03017.hp1 HG03130.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0010 a0011 a0032 a0059 a0064	a0001c0001 a0001c0002 a0001c0005 others(21): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0018 a0001c0021 a0001c0029 a0001c0044 a0001c0046 a0001c0049 a0001c0091 a0002c0007 a0002c0014 a0004c0008 a0004c0025 a0005c0027 a0005c0093 a0010c0017 a0010c0140 a0011c0037 a0011c0087 a0032c0062 a0059c0126 a0064c0069	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(29): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0001c0006t0001 a0001c0006t0003 a0001c0018t0003 a0001c0021t0001 a0001c0021t0002 a0001c0029t0004 a0001c0044t0004 a0001c0046t0004 a0001c0049t0002 a0001c0091t0002 a0002c0007t0001 a0002c0007t0002 a0002c0014t0001 a0002c0014t0003 a0004c0008t0008 a0004c0025t0001 a0004c0025t0002 a0005c0027t0001 a0005c0093t0001 a0010c0017t0002 a0010c0140t0001 a0011c0037t0003 a0011c0087t0001 a0032c0062t0003 a0059c0126t0003 a0064c0069t0003	a0001c0001t0002g0028 a0001c0002t0001g0171 a0001c0002t0002g0030 others(39): Show a0001c0001t0002g0028 a0001c0002t0001g0171 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0002t0002g0061 a0001c0002t0003g0279 a0001c0002t0004g0201 a0001c0002t0004g0208 a0001c0005t0001g0103 a0001c0006t0001g0158 a0001c0006t0001g0242 a0001c0006t0003g0274 a0001c0018t0003g0266 a0001c0021t0001g0178 a0001c0021t0002g0020 a0001c0029t0004g0197 a0001c0044t0004g0231 a0001c0046t0004g0230 a0001c0049t0002g0010 a0001c0091t0002g0021 a0002c0007t0001g0166 a0002c0007t0001g0167 a0002c0007t0002g0003 a0002c0007t0002g0009 a0002c0014t0001g0172 a0002c0014t0003g0292 a0004c0008t0008g0277 a0004c0025t0001g0116 a0004c0025t0002g0019 a0005c0027t0001g0134 a0005c0027t0001g0144 a0005c0093t0001g0118 a0010c0017t0002g0040 a0010c0017t0002g0042 a0010c0017t0002g0043 a0010c0140t0001g0100 a0011c0037t0003g0288 a0011c0087t0001g0181 a0032c0062t0003g0255 a0059c0126t0003g0303 a0064c0069t0003g0267	42	316	0.1329	0	c.101 others(7): Show c.10169+3G>A		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	66/85				chr17	TogoVar
DNAH2_chr17_7712744_7838742	7823985	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01099.hp1 HG01123.hp2 others(6): Show HG00642.hp2 HG01099.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG02004.hp2 NA18950.hp2	a0001 a0012 a0052 a0001 a0012 a0052	a0001c0005 a0001c0029 a0012c0011 others(1): Show a0001c0005 a0001c0029 a0012c0011 a0052c0101	a0001c0005t0001 a0001c0029t0001 a0012c0011t0001 others(3): Show a0001c0005t0001 a0001c0029t0001 a0012c0011t0001 a0012c0011t0002 a0012c0011t0005 a0052c0101t0001	a0001c0005t0001g0001 a0001c0029t0001g0110 a0012c0011t0001g0107 others(5): Show a0001c0005t0001g0001 a0001c0029t0001g0110 a0012c0011t0001g0107 a0012c0011t0001g0122 a0012c0011t0002g0016 a0012c0011t0005g0066 a0012c0011t0005g0072 a0052c0101t0001g0115	9	316	0.0285	0	c.114 others(7): Show c.11478+3C>G		DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	75/85				chr17	TogoVar
DNAH3_chr16_20928111_21155846	20935342	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 NA18948.hp1 NA18957.hp1 others(2): Show HG00408.hp2 NA18948.hp1 NA18957.hp1 NA18967.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0034 a0001c0002 a0001c0034	a0001c0002t0001 a0001c0034t0001 a0001c0002t0001 a0001c0034t0001	a0001c0002t0001g0155 a0001c0002t0001g0196 a0001c0002t0001g0198 others(2): Show a0001c0002t0001g0155 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0215 a0001c0034t0001g0060	5	234	0.0214	0	c.118 others(7): Show c.11859+6G>A		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	61/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	20941550	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02040.hp2	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0001 a0006c0042t0001	a0006c0042t0001g0084 a0006c0042t0001g0084	1	234	0.0043	0	c.113 others(7): Show c.11374-7T>C		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	58/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	20969994	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0013 a0001 a0013	a0001c0026 a0013c0017 a0001c0026 a0013c0017	a0001c0026t0001 a0013c0017t0001 a0001c0026t0001 a0013c0017t0001	a0001c0026t0001g0119 a0013c0017t0001g0049 a0001c0026t0001g0119 a0013c0017t0001g0049	2	234	0.0086	0	c.812 others(6): Show c.8122-4A>G		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	51/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	21075439	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0051 a0051	a0051c0088 a0051c0088	a0051c0088t0001 a0051c0088t0001	a0051c0088t0001g0187 a0051c0088t0001g0187	1	234	0.0043	0	c.294 others(6): Show c.2946+8T>A		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	21/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	21111994	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG02683.hp2 HG03942.hp1 HG01109.hp1 HG02683.hp2 HG03942.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0095 a0011c0015t0001g0100 a0011c0015t0001g0105 a0011c0015t0001g0095 a0011c0015t0001g0100 a0011c0015t0001g0105	3	234	0.0128	0	c.173 others(4): Show c.1739C>T	p.Thr others(6): Show p.Thr580Met	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	13/62	2050/12567	1739/12213	580/4070	chr16	TogoVar
DNAH3_chr16_20928111_21155846	21121940	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0001 a0001c0093t0001	a0001c0093t0001g0083 a0001c0093t0001g0083	1	234	0.0043	0	c.149 others(6): Show c.1497+5A>G		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	11/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	21127816	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0003 a0001c0026t0002g0003	1	234	0.0043	0	c.996 others(5): Show c.996-4G>T		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	8/61				chr16	TogoVar
DNAH3_chr16_20928111_21155846	21145412	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02647.hp2 HG02895.hp2 others(5): Show HG01884.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03471.hp1 NA19043.hp2	a0007 a0010 a0029 others(1): Show a0007 a0010 a0029 a0032	a0007c0012 a0007c0057 a0010c0056 others(2): Show a0007c0012 a0007c0057 a0010c0056 a0029c0055 a0032c0054	a0007c0012t0001 a0007c0057t0001 a0010c0056t0001 others(2): Show a0007c0012t0001 a0007c0057t0001 a0010c0056t0001 a0029c0055t0001 a0032c0054t0001	a0007c0012t0001g0179 a0007c0012t0001g0182 a0007c0012t0001g0183 others(5): Show a0007c0012t0001g0179 a0007c0012t0001g0182 a0007c0012t0001g0183 a0007c0012t0001g0184 a0007c0057t0001g0185 a0010c0056t0001g0135 a0029c0055t0001g0181 a0032c0054t0001g0180	8	234	0.0342	-1	c.136 others(6): Show c.136-7delC		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	3/61				chr16	TogoVar
DNAH5_chr5_13685328_13949688	13716688	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02055.hp2 HG02451.hp1 HG02896.hp2 others(7): Show HG02055.hp2 HG02451.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA21309.hp1	a0053 a0054 a0055 others(7): Show a0053 a0054 a0055 a0093 a0100 a0105 a0133 a0134 a0139 a0140	a0053c0195 a0054c0204 a0055c0205 others(7): Show a0053c0195 a0054c0204 a0055c0205 a0093c0113 a0100c0057 a0105c0064 a0133c0127 a0134c0158 a0139c0167 a0140c0190	a0053c0195t0001 a0054c0204t0009 a0055c0205t0001 others(7): Show a0053c0195t0001 a0054c0204t0009 a0055c0205t0001 a0093c0113t0001 a0100c0057t0001 a0105c0064t0001 a0133c0127t0005 a0134c0158t0001 a0139c0167t0021 a0140c0190t0001	a0053c0195t0001g0223 a0054c0204t0009g0226 a0055c0205t0001g0225 others(7): Show a0053c0195t0001g0223 a0054c0204t0009g0226 a0055c0205t0001g0225 a0093c0113t0001g0142 a0100c0057t0001g0015 a0105c0064t0001g0021 a0133c0127t0005g0013 a0134c0158t0001g0197 a0139c0167t0021g0116 a0140c0190t0001g0024	10	252	0.0397	0	c.127 others(5): Show c.12708T>C	p.Gly others(7): Show p.Gly4236Gly	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	74/79	12958/15781	12708/13875	4236/4624	chr5	TogoVar
DNAH5_chr5_13685328_13949688	13727500	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG02055.hp1 HG02109.hp2 others(14): Show HG01069.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0011 a0023 a0033 others(11): Show a0011 a0023 a0033 a0057 a0058 a0065 a0070 a0080 a0081 a0102 a0106 a0125 a0142 a0144	a0011c0011 a0011c0082 a0023c0097 others(12): Show a0011c0011 a0011c0082 a0023c0097 a0033c0009 a0057c0194 a0058c0038 a0065c0079 a0070c0073 a0080c0106 a0081c0043 a0102c0062 a0106c0103 a0125c0156 a0142c0191 a0144c0189	a0011c0011t0002 a0011c0082t0002 a0023c0097t0006 others(12): Show a0011c0011t0002 a0011c0082t0002 a0023c0097t0006 a0033c0009t0003 a0057c0194t0002 a0058c0038t0005 a0065c0079t0002 a0070c0073t0002 a0080c0106t0002 a0081c0043t0003 a0102c0062t0002 a0106c0103t0002 a0125c0156t0002 a0142c0191t0002 a0144c0189t0002	a0011c0011t0002g0080 a0011c0011t0002g0157 a0011c0082t0002g0086 others(14): Show a0011c0011t0002g0080 a0011c0011t0002g0157 a0011c0082t0002g0086 a0023c0097t0006g0146 a0033c0009t0003g0240 a0033c0009t0003g0241 a0057c0194t0002g0222 a0058c0038t0005g0004 a0065c0079t0002g0019 a0070c0073t0002g0082 a0080c0106t0002g0029 a0081c0043t0003g0239 a0102c0062t0002g0017 a0106c0103t0002g0145 a0125c0156t0002g0203 a0142c0191t0002g0186 a0144c0189t0002g0023	17	252	0.0675	0	c.120 others(7): Show c.12033+7A>G		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	70/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13809037	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02622.hp2 HG03209.hp1 HG02055.hp1 HG02622.hp2 HG03209.hp1	a0011 a0011	a0011c0011 a0011c0082 a0011c0011 a0011c0082	a0011c0011t0002 a0011c0082t0002 a0011c0011t0002 a0011c0082t0002	a0011c0011t0002g0080 a0011c0011t0002g0157 a0011c0082t0002g0086 a0011c0011t0002g0080 a0011c0011t0002g0157 a0011c0082t0002g0086	3	252	0.0119	0	c.775 others(6): Show c.7752+7C>G		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	46/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13824193	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG03130.hp2 HG02559.hp2 HG03130.hp2	a0096 a0097 a0096 a0097	a0096c0059 a0097c0060 a0096c0059 a0097c0060	a0096c0059t0001 a0097c0060t0002 a0096c0059t0001 a0097c0060t0002	a0096c0059t0001g0148 a0097c0060t0002g0147 a0096c0059t0001g0148 a0097c0060t0002g0147	2	252	0.0079	0	c.657 others(6): Show c.6579+6A>G		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	39/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13829502	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01891.hp2 HG02486.hp2 others(6): Show HG01069.hp1 HG01891.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp2 HG03139.hp2 HG03453.hp1 HG06807.hp1 NA19240.hp1	a0007 a0014 a0025 others(4): Show a0007 a0014 a0025 a0027 a0094 a0102 a0106	a0007c0068 a0007c0069 a0014c0131 others(6): Show a0007c0068 a0007c0069 a0014c0131 a0025c0067 a0027c0147 a0027c0148 a0094c0066 a0102c0062 a0106c0103	a0007c0068t0001 a0007c0069t0001 a0014c0131t0005 others(6): Show a0007c0068t0001 a0007c0069t0001 a0014c0131t0005 a0025c0067t0009 a0027c0147t0006 a0027c0148t0001 a0094c0066t0001 a0102c0062t0002 a0106c0103t0002	a0007c0068t0001g0156 a0007c0069t0001g0154 a0014c0131t0005g0011 others(6): Show a0007c0068t0001g0156 a0007c0069t0001g0154 a0014c0131t0005g0011 a0025c0067t0009g0155 a0027c0147t0006g0188 a0027c0148t0001g0189 a0094c0066t0001g0150 a0102c0062t0002g0017 a0106c0103t0002g0145	9	252	0.0357	0	c.644 others(6): Show c.6444+8A>G		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13839350	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp2 NA20300.hp2 HG03041.hp2 NA20300.hp2	a0100 a0144 a0100 a0144	a0100c0057 a0144c0189 a0100c0057 a0144c0189	a0100c0057t0001 a0144c0189t0002 a0100c0057t0001 a0144c0189t0002	a0100c0057t0001g0015 a0144c0189t0002g0023 a0100c0057t0001g0015 a0144c0189t0002g0023	2	252	0.0079	0	c.588 others(6): Show c.5882+6G>A		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	35/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13840908	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01074.hp1 HG02109.hp1 HG01074.hp1 HG02109.hp1	a0007 a0086 a0007 a0086	a0007c0070 a0086c0110 a0007c0070 a0086c0110	a0007c0070t0003 a0086c0110t0002 a0007c0070t0003 a0086c0110t0002	a0007c0070t0003g0237 a0086c0110t0002g0030 a0007c0070t0003g0237 a0086c0110t0002g0030	2	252	0.0079	0	c.570 others(4): Show c.5707C>T	p.Leu others(7): Show p.Leu1903Leu	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	34/79	5957/15781	5707/13875	1903/4624	chr5	TogoVar
DNAH5_chr5_13685328_13949688	13844997	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG03130.hp2 HG02559.hp2 HG03130.hp2	a0096 a0097 a0096 a0097	a0096c0059 a0097c0060 a0096c0059 a0097c0060	a0096c0059t0001 a0097c0060t0002 a0096c0059t0001 a0097c0060t0002	a0096c0059t0001g0148 a0097c0060t0002g0147 a0096c0059t0001g0148 a0097c0060t0002g0147	2	252	0.0079	0	c.511 others(6): Show c.5115-4G>T		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	31/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13844998	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(112): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18984.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp2 NA19030.hp2 NA19062.hp1 NA19068.hp1 NA19078.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0002 a0004 a0005 others(73): Show a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0021 a0022 a0024 a0025 a0027 a0030 a0031 a0032 a0036 a0037 a0040 a0044 a0048 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0063 a0064 a0068 a0069 a0071 a0076 a0078 a0082 a0084 a0085 a0086 a0087 a0089 a0094 a0098 a0099 a0102 a0105 a0106 a0108 a0109 a0114 a0115 a0116 a0119 a0120 a0122 a0123 a0124 a0125 a0126 a0128 a0130 a0136 a0137 a0138 a0139 a0141 a0142	a0002c0180 a0004c0121 a0005c0019 others(96): Show a0002c0180 a0004c0121 a0005c0019 a0006c0003 a0006c0041 a0006c0093 a0007c0068 a0007c0069 a0007c0070 a0008c0026 a0008c0056 a0008c0063 a0008c0065 a0009c0007 a0009c0170 a0009c0171 a0012c0084 a0013c0004 a0013c0117 a0014c0131 a0014c0132 a0014c0166 a0016c0200 a0017c0008 a0018c0017 a0018c0090 a0019c0018 a0019c0089 a0021c0040 a0021c0087 a0021c0092 a0022c0020 a0022c0091 a0024c0045 a0024c0111 a0025c0067 a0027c0147 a0027c0148 a0030c0021 a0031c0088 a0031c0094 a0032c0023 a0036c0030 a0037c0183 a0037c0184 a0040c0153 a0040c0155 a0044c0169 a0044c0181 a0048c0201 a0051c0203 a0052c0197 a0053c0195 a0054c0204 a0055c0205 a0056c0206 a0057c0194 a0058c0038 a0059c0037 a0060c0039 a0063c0074 a0064c0085 a0068c0095 a0069c0086 a0071c0083 a0076c0100 a0078c0104 a0082c0109 a0084c0047 a0085c0046 a0086c0110 a0087c0050 a0089c0049 a0094c0066 a0098c0122 a0099c0055 a0102c0062 a0105c0064 a0106c0103 a0108c0042 a0109c0124 a0114c0185 a0115c0134 a0116c0139 a0119c0149 a0120c0150 a0122c0157 a0123c0154 a0124c0152 a0125c0156 a0126c0151 a0128c0165 a0130c0141 a0136c0142 a0137c0182 a0138c0168 a0139c0167 a0141c0192 a0142c0191	a0002c0180t0012 a0004c0121t0001 a0005c0019t0001 others(97): Show a0002c0180t0012 a0004c0121t0001 a0005c0019t0001 a0006c0003t0002 a0006c0041t0002 a0006c0093t0002 a0007c0068t0001 a0007c0069t0001 a0007c0070t0003 a0008c0026t0002 a0008c0056t0003 a0008c0063t0006 a0008c0065t0002 a0009c0007t0002 a0009c0170t0002 a0009c0171t0020 a0012c0084t0001 a0013c0004t0001 a0013c0117t0001 a0014c0131t0005 a0014c0132t0001 a0014c0166t0002 a0016c0200t0016 a0017c0008t0002 a0018c0017t0001 a0018c0090t0001 a0019c0018t0002 a0019c0018t0003 a0019c0089t0002 a0021c0040t0001 a0021c0087t0001 a0021c0092t0001 a0022c0020t0001 a0022c0091t0001 a0024c0045t0001 a0024c0111t0007 a0025c0067t0009 a0027c0147t0006 a0027c0148t0001 a0030c0021t0002 a0031c0088t0008 a0031c0094t0008 a0032c0023t0002 a0036c0030t0002 a0037c0183t0002 a0037c0184t0002 a0040c0153t0001 a0040c0155t0009 a0044c0169t0001 a0044c0181t0001 a0048c0201t0001 a0051c0203t0002 a0052c0197t0014 a0053c0195t0001 a0054c0204t0009 a0055c0205t0001 a0056c0206t0002 a0057c0194t0002 a0058c0038t0005 a0059c0037t0011 a0060c0039t0007 a0063c0074t0002 a0064c0085t0018 a0068c0095t0001 a0069c0086t0002 a0071c0083t0001 a0076c0100t0002 a0078c0104t0002 a0082c0109t0002 a0084c0047t0004 a0085c0046t0003 a0086c0110t0002 a0087c0050t0008 a0089c0049t0003 a0094c0066t0001 a0098c0122t0001 a0099c0055t0003 a0102c0062t0002 a0105c0064t0001 a0106c0103t0002 a0108c0042t0001 a0109c0124t0005 a0114c0185t0001 a0115c0134t0001 a0116c0139t0002 a0119c0149t0022 a0120c0150t0002 a0122c0157t0002 a0123c0154t0001 a0124c0152t0002 a0125c0156t0002 a0126c0151t0002 a0128c0165t0001 a0130c0141t0002 a0136c0142t0002 a0137c0182t0001 a0138c0168t0024 a0139c0167t0021 a0141c0192t0001 a0142c0191t0002	a0002c0180t0012g0167 a0004c0121t0001g0093 a0005c0019t0001g0057 others(112): Show a0002c0180t0012g0167 a0004c0121t0001g0093 a0005c0019t0001g0057 a0005c0019t0001g0077 a0006c0003t0002g0040 a0006c0003t0002g0070 a0006c0003t0002g0083 a0006c0041t0002g0038 a0006c0093t0002g0049 a0007c0068t0001g0156 a0007c0069t0001g0154 a0007c0070t0003g0237 a0008c0026t0002g0036 a0008c0026t0002g0053 a0008c0056t0003g0250 a0008c0063t0006g0151 a0008c0065t0002g0016 a0009c0007t0002g0126 a0009c0007t0002g0165 a0009c0007t0002g0180 a0009c0170t0002g0115 a0009c0171t0020g0176 a0012c0084t0001g0059 a0013c0004t0001g0089 a0013c0004t0001g0090 a0013c0004t0001g0111 a0013c0117t0001g0105 a0014c0131t0005g0011 a0014c0132t0001g0192 a0014c0166t0002g0117 a0016c0200t0016g0217 a0017c0008t0002g0214 a0017c0008t0002g0215 a0017c0008t0002g0216 a0018c0017t0001g0071 a0018c0017t0001g0073 a0018c0090t0001g0068 a0019c0018t0002g0085 a0019c0018t0003g0246 a0019c0089t0002g0103 a0021c0040t0001g0044 a0021c0087t0001g0066 a0021c0092t0001g0106 a0022c0020t0001g0067 a0022c0020t0001g0109 a0022c0091t0001g0050 a0024c0045t0001g0060 a0024c0111t0007g0008 a0025c0067t0009g0155 a0027c0147t0006g0188 a0027c0148t0001g0189 a0030c0021t0002g0051 a0030c0021t0002g0207 a0031c0088t0008g0032 a0031c0094t0008g0043 a0032c0023t0002g0039 a0032c0023t0002g0074 a0036c0030t0002g0136 a0036c0030t0002g0137 a0037c0183t0002g0140 a0037c0184t0002g0135 a0040c0153t0001g0205 a0040c0155t0009g0204 a0044c0169t0001g0196 a0044c0181t0001g0172 a0048c0201t0001g0210 a0051c0203t0002g0230 a0052c0197t0014g0224 a0053c0195t0001g0223 a0054c0204t0009g0226 a0055c0205t0001g0225 a0056c0206t0002g0229 a0057c0194t0002g0222 a0058c0038t0005g0004 a0059c0037t0011g0006 a0060c0039t0007g0005 a0063c0074t0002g0056 a0064c0085t0018g0062 a0068c0095t0001g0087 a0069c0086t0002g0065 a0071c0083t0001g0153 a0076c0100t0002g0075 a0078c0104t0002g0031 a0082c0109t0002g0034 a0084c0047t0004g0236 a0085c0046t0003g0235 a0086c0110t0002g0030 a0087c0050t0008g0099 a0089c0049t0003g0238 a0094c0066t0001g0150 a0098c0122t0001g0092 a0099c0055t0003g0243 a0102c0062t0002g0017 a0105c0064t0001g0021 a0106c0103t0002g0145 a0108c0042t0001g0069 a0109c0124t0005g0009 a0114c0185t0001g0128 a0115c0134t0001g0161 a0116c0139t0002g0199 a0119c0149t0022g0232 a0120c0150t0002g0182 a0122c0157t0002g0133 a0123c0154t0001g0202 a0124c0152t0002g0131 a0125c0156t0002g0203 a0126c0151t0002g0187 a0128c0165t0001g0122 a0130c0141t0002g0134 a0136c0142t0002g0144 a0137c0182t0001g0166 a0138c0168t0024g0234 a0139c0167t0021g0116 a0141c0192t0001g0026 a0142c0191t0002g0186	115	252	0.4564	0	c.511 others(6): Show c.5115-5T>C		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	31/78				chr5	TogoVar
DNAH5_chr5_13685328_13949688	13867994	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(87): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18945.hp2 NA18949.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18966.hp1 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19006.hp1 NA19011.hp2 NA19062.hp1 NA19068.hp1 NA19078.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(56): Show a0001 a0002 a0004 a0006 a0007 a0009 a0010 a0013 a0014 a0015 a0016 a0017 a0018 a0021 a0022 a0023 a0024 a0025 a0028 a0031 a0032 a0041 a0042 a0044 a0045 a0046 a0048 a0054 a0055 a0056 a0063 a0068 a0074 a0075 a0076 a0077 a0084 a0085 a0086 a0098 a0101 a0108 a0109 a0111 a0115 a0116 a0117 a0118 a0122 a0125 a0131 a0132 a0137 a0141 a0142 a0144 a0145 a0146 a0147	a0001c0006 a0001c0035 a0001c0143 others(66): Show a0001c0006 a0001c0035 a0001c0143 a0002c0001 a0002c0175 a0002c0180 a0004c0118 a0004c0121 a0006c0041 a0006c0093 a0007c0070 a0009c0007 a0010c0002 a0013c0004 a0014c0179 a0015c0033 a0015c0176 a0016c0036 a0016c0200 a0017c0008 a0018c0090 a0021c0040 a0021c0092 a0022c0091 a0023c0022 a0024c0111 a0025c0119 a0028c0034 a0028c0177 a0031c0094 a0032c0023 a0041c0178 a0042c0173 a0044c0181 a0045c0028 a0046c0199 a0048c0201 a0054c0204 a0055c0205 a0056c0206 a0063c0074 a0068c0095 a0074c0099 a0075c0098 a0076c0100 a0077c0102 a0084c0047 a0085c0046 a0086c0110 a0098c0122 a0101c0120 a0108c0042 a0109c0124 a0111c0136 a0115c0134 a0116c0139 a0117c0138 a0118c0137 a0122c0157 a0125c0156 a0131c0174 a0132c0172 a0137c0182 a0141c0192 a0142c0191 a0144c0189 a0145c0188 a0146c0193 a0147c0140	a0001c0006t0002 a0001c0006t0023 a0001c0035t0002 others(68): Show a0001c0006t0002 a0001c0006t0023 a0001c0035t0002 a0001c0143t0006 a0002c0001t0001 a0002c0175t0001 a0002c0180t0012 a0004c0118t0001 a0004c0121t0001 a0006c0041t0002 a0006c0093t0002 a0007c0070t0003 a0009c0007t0002 a0010c0002t0002 a0010c0002t0019 a0013c0004t0001 a0014c0179t0002 a0015c0033t0001 a0015c0176t0001 a0016c0036t0001 a0016c0200t0016 a0017c0008t0002 a0018c0090t0001 a0021c0040t0001 a0021c0092t0001 a0022c0091t0001 a0023c0022t0002 a0024c0111t0007 a0025c0119t0001 a0028c0034t0001 a0028c0177t0001 a0031c0094t0008 a0032c0023t0002 a0041c0178t0001 a0042c0173t0002 a0044c0181t0001 a0045c0028t0001 a0046c0199t0001 a0048c0201t0001 a0054c0204t0009 a0055c0205t0001 a0056c0206t0002 a0063c0074t0002 a0068c0095t0001 a0074c0099t0001 a0075c0098t0001 a0076c0100t0002 a0077c0102t0001 a0084c0047t0004 a0085c0046t0003 a0086c0110t0002 a0098c0122t0001 a0101c0120t0025 a0108c0042t0001 a0109c0124t0005 a0111c0136t0001 a0115c0134t0001 a0116c0139t0002 a0117c0138t0001 a0118c0137t0001 a0122c0157t0002 a0125c0156t0002 a0131c0174t0008 a0132c0172t0002 a0137c0182t0001 a0141c0192t0001 a0142c0191t0002 a0144c0189t0002 a0145c0188t0002 a0146c0193t0001 a0147c0140t0002	a0001c0006t0002g0120 a0001c0006t0002g0132 a0001c0006t0023g0233 others(87): Show a0001c0006t0002g0120 a0001c0006t0002g0132 a0001c0006t0023g0233 a0001c0035t0002g0158 a0001c0035t0002g0171 a0001c0143t0006g0195 a0002c0001t0001g0121 a0002c0001t0001g0130 a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0175t0001g0173 a0002c0180t0012g0167 a0004c0118t0001g0037 a0004c0121t0001g0093 a0006c0041t0002g0038 a0006c0093t0002g0049 a0007c0070t0003g0237 a0009c0007t0002g0126 a0009c0007t0002g0165 a0009c0007t0002g0180 a0010c0002t0002g0211 a0010c0002t0002g0212 a0010c0002t0002g0231 a0010c0002t0019g0228 a0013c0004t0001g0089 a0013c0004t0001g0090 a0013c0004t0001g0111 a0014c0179t0002g0181 a0015c0033t0001g0170 a0015c0033t0001g0183 a0015c0176t0001g0164 a0016c0036t0001g0219 a0016c0036t0001g0220 a0016c0200t0016g0217 a0017c0008t0002g0214 a0017c0008t0002g0215 a0017c0008t0002g0216 a0018c0090t0001g0068 a0021c0040t0001g0044 a0021c0092t0001g0106 a0022c0091t0001g0050 a0023c0022t0002g0095 a0023c0022t0002g0096 a0024c0111t0007g0008 a0025c0119t0001g0091 a0028c0034t0001g0112 a0028c0034t0001g0174 a0028c0177t0001g0127 a0031c0094t0008g0043 a0032c0023t0002g0039 a0032c0023t0002g0074 a0041c0178t0001g0138 a0042c0173t0002g0201 a0044c0181t0001g0172 a0045c0028t0001g0159 a0045c0028t0001g0160 a0046c0199t0001g0221 a0048c0201t0001g0210 a0054c0204t0009g0226 a0055c0205t0001g0225 a0056c0206t0002g0229 a0063c0074t0002g0056 a0068c0095t0001g0087 a0074c0099t0001g0097 a0075c0098t0001g0042 a0076c0100t0002g0075 a0077c0102t0001g0028 a0084c0047t0004g0236 a0085c0046t0003g0235 a0086c0110t0002g0030 a0098c0122t0001g0092 a0101c0120t0025g0245 a0108c0042t0001g0069 a0109c0124t0005g0009 a0111c0136t0001g0184 a0115c0134t0001g0161 a0116c0139t0002g0199 a0117c0138t0001g0178 a0118c0137t0001g0185 a0122c0157t0002g0133 a0125c0156t0002g0203 a0131c0174t0008g0177 a0132c0172t0002g0200 a0137c0182t0001g0166 a0141c0192t0001g0026 a0142c0191t0002g0186 a0144c0189t0002g0023 a0145c0188t0002g0025 a0146c0193t0001g0193 a0147c0140t0002g0139	90	252	0.3571	-1	c.383 others(7): Show c.3835-3delT		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	24/78				chr5	TogoVar

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