JoGo: Joint Open Genome and Omics Platform

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
DMD_chrX_31114222_33216549	31843847	T T	TTATTGTA others(23): Show TTATTGTATTGTATTGTATTGTATTATATTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00673.hp1 others(41): Show HG00280.hp1 HG00609.hp1 HG00673.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01952.hp1 HG02015.hp1 HG02071.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03942.hp1 HG04204.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19068.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0015 a0018 a0024 a0025 a0030 a0031 a0033 a0035 a0036	a0001c0001 a0001c0002 a0002c0005 others(28): Show a0001c0001 a0001c0002 a0002c0005 a0002c0012 a0002c0016 a0002c0052 a0003c0003 a0003c0008 a0003c0014 a0003c0062 a0004c0011 a0005c0007 a0005c0045 a0005c0053 a0005c0057 a0006c0006 a0006c0032 a0007c0018 a0007c0019 a0008c0010 a0009c0013 a0010c0051 a0015c0056 a0018c0061 a0024c0038 a0025c0039 a0030c0037 a0031c0047 a0033c0050 a0035c0029 a0036c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0012t0002 a0002c0016t0001 a0002c0016t0009 a0002c0052t0025 a0003c0003t0002 a0003c0008t0012 a0003c0014t0001 a0003c0014t0010 a0003c0062t0001 a0004c0011t0001 a0005c0007t0002 a0005c0045t0018 a0005c0053t0004 a0005c0057t0001 a0006c0006t0001 a0006c0032t0003 a0007c0018t0001 a0007c0019t0001 a0008c0010t0001 a0008c0010t0009 a0009c0013t0001 a0010c0051t0011 a0015c0056t0021 a0018c0061t0001 a0024c0038t0001 a0025c0039t0003 a0030c0037t0005 a0031c0047t0005 a0033c0050t0001 a0035c0029t0001 a0036c0021t0017	a0001c0001t0001g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 others(41): Show a0001c0001t0001g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0004g0101 a0001c0001t0008g0021 a0001c0001t0016g0038 a0001c0001t0026g0039 a0001c0002t0001g0051 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0002g0056 a0002c0005t0001g0040 a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0016t0001g0060 a0002c0016t0009g0014 a0002c0052t0025g0095 a0003c0003t0002g0043 a0003c0008t0012g0117 a0003c0014t0001g0059 a0003c0014t0010g0015 a0003c0062t0001g0078 a0004c0011t0001g0034 a0005c0007t0002g0093 a0005c0045t0018g0118 a0005c0053t0004g0103 a0005c0057t0001g0109 a0006c0006t0001g0047 a0006c0032t0003g0077 a0007c0018t0001g0099 a0007c0019t0001g0052 a0008c0010t0001g0044 a0008c0010t0009g0004 a0009c0013t0001g0017 a0010c0051t0011g0121 a0015c0056t0021g0045 a0018c0061t0001g0003 a0024c0038t0001g0053 a0025c0039t0003g0075 a0030c0037t0005g0082 a0031c0047t0005g0081 a0033c0050t0001g0119 a0035c0029t0001g0071 a0036c0021t0017g0009	44	126	0.3492	30	c.709 others(49): Show c.7099-7029_7099-7028insCAATATAATACAATACAATACAATAC AATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845031	T T	TATATATA others(23): Show TATATATATATATATATGTATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0002 a0005 a0002 a0005	a0002c0052 a0005c0007 a0002c0052 a0005c0007	a0002c0052t0025 a0005c0007t0002 a0002c0052t0025 a0005c0007t0002	a0002c0052t0025g0095 a0005c0007t0002g0093 a0002c0052t0025g0095 a0005c0007t0002g0093	2	126	0.0159	30	c.709 others(49): Show c.7099-8213_7099-8212insGTATACACATATACATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31951125	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	126	0.0079	30	c.661 others(51): Show c.6614+17213_6614+17214insCATATATATATATATATATATATA TATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18952.hp1 HG01106.hp1 NA18952.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0015 a0001c0002 a0013c0015	a0001c0002t0001 a0013c0015t0001 a0001c0002t0001 a0013c0015t0001	a0001c0002t0001g0051 a0013c0015t0001g0102 a0001c0002t0001g0051 a0013c0015t0001g0102	2	126	0.0159	30	c.643 others(51): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18945.hp1 NA18955.hp1 others(1): Show HG03710.hp1 NA18945.hp1 NA18955.hp1 NA19005.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0011 a0006c0006 a0001c0001 a0004c0011 a0006c0006	a0001c0001t0001 a0004c0011t0001 a0006c0006t0001 a0001c0001t0001 a0004c0011t0001 a0006c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0076 a0004c0011t0001g0085 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0004c0011t0001g0085 a0006c0006t0001g0047	4	126	0.0318	30	c.592 others(49): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0031 a0031	a0031c0047 a0031c0047	a0031c0047t0005 a0031c0047t0005	a0031c0047t0005g0081 a0031c0047t0005g0081	1	126	0.0079	30	c.407 others(49): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452328	T T	TGAAAGGG others(23): Show TGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0089 a0019c0033t0001g0089	1	126	0.0079	30	c.360 others(49): Show c.3603+2333_3603+2334insCCTTTCCCTTTCCCTTTCCCTTTCCC TTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	30	c.280 others(49): Show c.2803+1754_2803+1755insGTGTATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18984.hp1 HG01928.hp1 NA18984.hp1	a0001 a0031 a0001 a0031	a0001c0022 a0031c0047 a0001c0022 a0031c0047	a0001c0022t0001 a0031c0047t0005 a0001c0022t0001 a0031c0047t0005	a0001c0022t0001g0036 a0031c0047t0005g0081 a0001c0022t0001g0036 a0031c0047t0005g0081	2	126	0.0159	30	c.280 others(49): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	126	0.0079	30	c.160 others(51): Show c.1602+10028_1602+10057dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	30	c.530 others(45): Show c.530+947_530+948insGTGTGTGTGTGTGTATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18952.hp1 HG02976.hp2 NA18952.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0057 a0001c0002 a0005c0057	a0001c0002t0001 a0005c0057t0001 a0001c0002t0001 a0005c0057t0001	a0001c0002t0001g0051 a0005c0057t0001g0109 a0001c0002t0001g0051 a0005c0057t0001g0109	2	126	0.0159	30	c.94- others(47): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAACAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	126	0.0079	30	c.94- others(47): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTGTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0013 a0020c0034t0001g0013	1	126	0.0079	30	c.93+ others(47): Show c.93+51111_93+51112insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0124 a0017c0027t0001g0124	1	126	0.0079	30	c.32- others(47): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18950.hp2 HG01257.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0044 a0002c0002t0006g0039 a0002c0002t0003g0044 a0002c0002t0006g0039	2	306	0.0065	30	c.-11 others(41): Show c.-1117_-1116insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding		974		chr9	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	306	0.0033	30	c.354 others(43): Show c.354+61_354+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(23): Show CAGAGAGACAGAGAGACAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	394	0.0025	30	c.-13 others(41): Show c.-1381_-1380insAGAGAGACAGAGAGACAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCCTCCT others(23): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	26	0.0385	30	c.-37 others(39): Show c.-370_-341dupCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7	68133	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(23): Show GTTTGCTTTGCTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	54	0.0185	30	c.-94 others(47): Show c.-94-4829_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAAGCA AA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72943787	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGCAGGAGGAGGAGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	54	0.0185	30	c.-30 others(39): Show c.-308_-307insGCTCCTCCTCCTCCTGCTCCTCCTCCTCCT	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7	68094		chrX	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	324	0.0031	30	c.836 others(45): Show c.836-900_836-899insAATATATATATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119123321	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02886.hp1 HG00673.hp1 HG02886.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0012 a0001c0002 a0007c0012	a0001c0002t0004 a0007c0012t0001 a0001c0002t0004 a0007c0012t0001	a0001c0002t0004g0215 a0007c0012t0001g0041 a0001c0002t0004g0215 a0007c0012t0001g0041	2	238	0.0084	30	c.110 others(49): Show c.1102+2212_1102+2241dupAGGGAGAGGGAGAGGAGGGAGAGGGA GAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119123399	G G	GGGAGGGA others(23): Show GGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19030.hp1 HG02683.hp2 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0018 a0001c0001 a0011c0018	a0001c0001t0001 a0011c0018t0016 a0001c0001t0001 a0011c0018t0016	a0001c0001t0001g0223 a0011c0018t0016g0218 a0001c0001t0001g0223 a0011c0018t0016g0218	2	238	0.0084	30	c.110 others(49): Show c.1102+2287_1102+2316dupGAGAGGAGGGAGAGGGAGAGGAGGGA GAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0141 a0007c0012t0001g0042 a0001c0001t0001g0141 a0007c0012t0001g0042	2	238	0.0084	30	c.668 others(49): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01261.hp1 others(4): Show HG00544.hp2 HG00609.hp2 HG01261.hp1 HG01993.hp1 HG03491.hp2 NA18950.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 a0001c0002t0001 a0002c0003t0001 a0002c0003t0006	a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0116 others(4): Show a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0116 a0002c0003t0001g0063 a0002c0003t0001g0066 a0002c0003t0001g0086 a0002c0003t0006g0074	7	238	0.0294	30	c.668 others(49): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	238	0.0042	30	c.668 others(49): Show c.6682-1482_6682-1481insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG04199.hp1 HG03139.hp1 HG03486.hp2 HG04199.hp1	a0001 a0005 a0021 a0001 a0005 a0021	a0001c0002 a0005c0014 a0021c0046 a0001c0002 a0005c0014 a0021c0046	a0001c0002t0001 a0005c0014t0005 a0021c0046t0010 a0001c0002t0001 a0005c0014t0005 a0021c0046t0010	a0001c0002t0001g0131 a0005c0014t0005g0038 a0021c0046t0010g0118 a0001c0002t0001g0131 a0005c0014t0005g0038 a0021c0046t0010g0118	3	238	0.0126	30	c.668 others(49): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18975.hp2 NA18977.hp1 others(1): Show HG02922.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2	a0004 a0013 a0004 a0013	a0004c0005 a0013c0034 a0004c0005 a0013c0034	a0004c0005t0001 a0013c0034t0007 a0004c0005t0001 a0013c0034t0007	a0004c0005t0001g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 others(1): Show a0004c0005t0001g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0013c0034t0007g0211	4	346	0.0116	30	c.299 others(47): Show c.2992+470_2992+499dupCACACACACACACACACACACACACACA CA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF11_chr8_132565416_132680545	132674147	A A	AGAGAAGG others(23): Show AGAGAAGGAGGAGAAGGAGGAGGAGGAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01069.hp2 others(8): Show HG00099.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02602.hp1 HG02896.hp1 HG03669.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 others(8): Show a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0034 a0003c0003t0002g0076 a0003c0003t0002g0077	11	276	0.0399	30	c.10+ others(45): Show c.10+1336_10+1337insCTTCTCCTCCTCCTCCTTCTCCTCCTTCTC	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132674151	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGGAAGAGAAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0014 a0002c0004t0010g0014	1	276	0.0036	30	c.10+ others(45): Show c.10+1332_10+1333insTCTCCTCCTTCTCTTCCTCCTCCTCCTCCT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 NA19240.hp1 HG03209.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0161 a0001c0001t0002g0010 a0001c0001t0002g0161	3	456	0.0066	30	c.125 others(45): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	398	0.0025	30	c.-18 others(41): Show c.-1889_-1888insCTCTCTATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(23): Show TATATATATATATATATATATATATGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG02451.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0105 a0002c0003t0001g0049 a0002c0003t0001g0105	2	398	0.0050	30	c.-18 others(41): Show c.-1889_-1888insCTCTCCATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00733.hp2 others(2): Show HG00408.hp2 HG00642.hp2 HG00733.hp2 HG01358.hp1 HG01975.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0080	5	398	0.0126	30	c.-43 others(41): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(23): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 NA18522.hp2 others(1): Show HG01243.hp1 HG02572.hp1 NA18522.hp2 NA19030.hp2	a0020 a0055 a0070 a0020 a0055 a0070	a0020c0022 a0055c0071 a0070c0086 a0020c0022 a0055c0071 a0070c0086	a0020c0022t0001 a0055c0071t0001 a0070c0086t0002 a0020c0022t0001 a0055c0071t0001 a0070c0086t0002	a0020c0022t0001g0120 a0020c0022t0001g0121 a0055c0071t0001g0129 others(1): Show a0020c0022t0001g0120 a0020c0022t0001g0121 a0055c0071t0001g0129 a0070c0086t0002g0156	4	170	0.0235	30	c.842 others(45): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911285	A A	ATCTGTCC others(23): Show ATCTGTCCTGGGGGGTCTGTCCTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(24): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02630.hp2 HG02717.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0032 a0035 a0038 a0050 a0073	a0001c0001 a0001c0002 a0001c0041 others(13): Show a0001c0001 a0001c0002 a0001c0041 a0001c0058 a0001c0067 a0002c0011 a0002c0029 a0003c0019 a0004c0050 a0006c0026 a0006c0027 a0032c0039 a0035c0055 a0038c0069 a0050c0056 a0073c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0058t0001 a0001c0067t0001 a0002c0011t0001 a0002c0029t0001 a0003c0019t0002 a0004c0050t0001 a0006c0026t0002 a0006c0027t0001 a0032c0039t0001 a0035c0055t0002 a0038c0069t0001 a0050c0056t0001 a0073c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 others(24): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0002t0002g0072 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0058t0001g0033 a0001c0067t0001g0082 a0002c0011t0001g0086 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0004c0050t0001g0136 a0006c0026t0002g0079 a0006c0026t0002g0081 a0006c0027t0001g0115 a0032c0039t0001g0018 a0035c0055t0002g0069 a0038c0069t0001g0056 a0050c0056t0001g0073 a0073c0034t0001g0055	27	170	0.1588	30	c.101 others(49): Show c.10134+669_10134+698dupGGGGGTCTGTCCTGGGGGGTCTGTCC TGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911291	C C	CCTGGGGG others(23): Show CCTGGGGGGTCTGTCCTGGGGGGGGTCTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	170	0.0059	30	c.101 others(49): Show c.10134+648_10134+649insACTGGGGGGTCTGTCCTGGGGGGGGT CTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911872	G G	GGGGGTCT others(23): Show GGGGGTCTGTCCTGGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0003 a0002c0011t0001g0003	1	170	0.0059	30	c.101 others(51): Show c.10134+1204_10134+1205insTCTGTCCTGGGGGGGGGGTCTGTC CTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912277	C C	CCTGGGGG others(23): Show CCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	170	0.0059	30	c.101 others(49): Show c.10135-820_10135-819insTGGGGGGGGTCTGTCCTGGGGGGGTC TGTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789798	T T	TTTTTTCT others(23): Show TTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0177 a0177	a0177c0246 a0177c0246	a0177c0246t0001 a0177c0246t0001	a0177c0246t0001g0231 a0177c0246t0001g0231	1	298	0.0034	30	c.100 others(49): Show c.10026+458_10026+459insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATATATATATGTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	266	0.0038	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAATACATATATATATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(23): Show ATATATATGTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG01109.hp1 HG02451.hp1	a0012 a0026 a0012 a0026	a0012c0010 a0026c0020 a0012c0010 a0026c0020	a0012c0010t0002 a0026c0020t0004 a0012c0010t0002 a0026c0020t0004	a0012c0010t0002g0259 a0026c0020t0004g0219 a0012c0010t0002g0259 a0026c0020t0004g0219	2	266	0.0075	30	c.111 others(49): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAAAATACATA TATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02886.hp1 HG02258.hp2 HG02622.hp1 HG02886.hp1	a0007 a0013 a0007 a0013	a0007c0008 a0013c0009 a0007c0008 a0013c0009	a0007c0008t0002 a0013c0009t0001 a0007c0008t0002 a0013c0009t0001	a0007c0008t0002g0046 a0007c0008t0002g0078 a0013c0009t0001g0111 a0007c0008t0002g0046 a0007c0008t0002g0078 a0013c0009t0001g0111	3	266	0.0113	30	c.997 others(49): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACACTAT others(23): Show CACACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0002 a0017c0062t0002	a0017c0062t0002g0252 a0017c0062t0002g0252	1	266	0.0038	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA GTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(23): Show CACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1	a0007 a0011 a0035 a0007 a0011 a0035	a0007c0008 a0011c0018 a0035c0045 a0007c0008 a0011c0018 a0035c0045	a0007c0008t0002 a0011c0018t0001 a0035c0045t0002 a0007c0008t0002 a0011c0018t0001 a0035c0045t0002	a0007c0008t0002g0046 a0011c0018t0001g0058 a0035c0045t0002g0012 a0007c0008t0002g0046 a0011c0018t0001g0058 a0035c0045t0002g0012	3	266	0.0113	30	c.936 others(49): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 NA18947.hp1 others(1): Show HG00280.hp2 HG01106.hp2 NA18947.hp1 NA18981.hp2	a0008 a0028 a0052 a0008 a0028 a0052	a0008c0007 a0028c0021 a0052c0091 a0008c0007 a0028c0021 a0052c0091	a0008c0007t0001 a0028c0021t0001 a0052c0091t0001 a0008c0007t0001 a0028c0021t0001 a0052c0091t0001	a0008c0007t0001g0167 a0028c0021t0001g0092 a0028c0021t0001g0098 others(1): Show a0008c0007t0001g0167 a0028c0021t0001g0092 a0028c0021t0001g0098 a0052c0091t0001g0230	4	266	0.0150	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0067	1	266	0.0038	30	c.730 others(49): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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