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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02818.hp2 HG01496.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0013 a0001c0003t0010 a0001c0003t0013	a0001c0003t0010g0017 a0001c0003t0013g0015 a0001c0003t0010g0017 a0001c0003t0013g0015	2	316	0.0063	-36	c.260 others(55): Show c.2601+1016_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDDS_chr1_26427321_26476306	26464308	TTATTGAG others(29): Show TTATTGAGTTCTTACCACATGTCAGGCATCCTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	314	0.0032	-36	c.765 others(53): Show c.765+4197_765+4232delCCAGTATTGAGTTCTTACCACATGTCAG GCATCCTT	DHDDS	ENSG00000117682.18	transcript	ENST00000236342.12	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHRS9_chr2_169064563_169101167	169079975	GAGAGAGA others(29): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18955.hp2 HG01256.hp1 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0089 a0001c0002t0002g0057 a0001c0002t0002g0089	2	398	0.0050	-36	c.-59 others(53): Show c.-59-1544_-59-1509delGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079979	GAGAGAGA others(29): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp2 HG03098.hp2 others(6): Show HG00140.hp1 HG02602.hp2 HG03098.hp2 HG03669.hp2 NA18612.hp1 NA18941.hp1 NA18972.hp1 NA18998.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0142 a0001c0002t0002g0008 a0001c0002t0002g0029 others(5): Show a0001c0001t0001g0142 a0001c0002t0002g0008 a0001c0002t0002g0029 a0001c0002t0002g0042 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0166 a0001c0002t0002g0177	9	398	0.0226	-36	c.-59 others(53): Show c.-59-1540_-59-1505delGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2283895	TTCATTCC others(29): Show TTCATTCCTTTGAATTCACTCATTCCTTTGAATTCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01167.hp1 others(27): Show HG00280.hp1 HG00673.hp1 HG01167.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18971.hp1 NA19066.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011	a0001c0001 a0002c0002 a0002c0005 others(8): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0016 a0004c0004 a0005c0006 a0005c0008 a0006c0013 a0008c0010 a0011c0007	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(11): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0002c0005t0004 a0002c0005t0008 a0003c0003t0002 a0003c0016t0002 a0004c0004t0001 a0005c0006t0004 a0005c0008t0006 a0006c0013t0015 a0008c0010t0014 a0011c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0012g0027 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0005t0004g0004 a0002c0005t0008g0010 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0004c0004t0001g0048 a0005c0006t0004g0034 a0005c0008t0006g0001 a0006c0013t0015g0011 a0008c0010t0014g0046 a0011c0007t0001g0028	30	50	0.6000	-36	c.388 others(53): Show c.388+7571_388+7606delGTGAATTCAAAGGAATGAGTGAATTCAA AGGAATGA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2296693	TAGGAATA others(29): Show TAGGAATAGGACCCAGGCAGATAGACCCCAGGCAGAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 NA18522.hp1 HG02886.hp2 HG02895.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0004 a0005c0006t0004 a0002c0002t0004 a0005c0006t0004	a0002c0002t0004g0031 a0002c0002t0004g0035 a0005c0006t0004g0034 a0002c0002t0004g0031 a0002c0002t0004g0035 a0005c0006t0004g0034	3	50	0.0600	-36	c.287 others(53): Show c.287-5126_287-5091delGTCTGCCTGGGGTCTATCTGCCTGGGTC CTATTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24547913	ATATATAT others(29): Show ATATATATATATATATATATATATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	374	0.0054	-36	c.124 others(53): Show c.1248+906_1248+941delGATATAGATATATATATATATATATATA TATATATA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar
DHX37_chr12_124941826_124994131	124961184	GCACGCAC others(29): Show GCACGCACACACACACATACACGTGTGCACGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00597.hp1 others(105): Show HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03453.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19083.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0006 a0008 a0009 a0014 a0018 a0019 a0025 a0027 a0031	a0001c0001 a0001c0054 a0001c0057 others(15): Show a0001c0001 a0001c0054 a0001c0057 a0001c0058 a0002c0003 a0002c0038 a0002c0043 a0002c0046 a0005c0022 a0006c0019 a0008c0025 a0009c0026 a0014c0029 a0018c0044 a0019c0041 a0025c0052 a0027c0048 a0031c0034	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(20): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0054t0001 a0001c0057t0001 a0001c0058t0001 a0002c0003t0001 a0002c0003t0009 a0002c0003t0018 a0002c0038t0001 a0002c0043t0001 a0002c0046t0001 a0005c0022t0001 a0005c0022t0002 a0006c0019t0001 a0008c0025t0001 a0009c0026t0001 a0014c0029t0001 a0018c0044t0001 a0019c0041t0001 a0025c0052t0001 a0027c0048t0001 a0031c0034t0015	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(101): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0009g0212 a0001c0001t0009g0289 a0001c0001t0016g0280 a0001c0054t0001g0227 a0001c0057t0001g0209 a0001c0058t0001g0125 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0050 a0002c0003t0001g0055 a0002c0003t0001g0066 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0085 a0002c0003t0001g0087 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0135 a0002c0003t0001g0262 a0002c0003t0001g0302 a0002c0003t0001g0305 a0002c0003t0001g0311 a0002c0003t0001g0315 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0332 a0002c0003t0001g0340 a0002c0003t0009g0122 a0002c0003t0018g0336 a0002c0038t0001g0136 a0002c0043t0001g0110 a0002c0046t0001g0090 a0005c0022t0001g0045 a0005c0022t0002g0036 a0005c0022t0002g0043 a0006c0019t0001g0160 a0006c0019t0001g0241 a0006c0019t0001g0243 a0006c0019t0001g0244 a0006c0019t0001g0245 a0008c0025t0001g0068 a0008c0025t0001g0089 a0009c0026t0001g0092 a0009c0026t0001g0093 a0014c0029t0001g0222 a0014c0029t0001g0223 a0018c0044t0001g0078 a0019c0041t0001g0082 a0025c0052t0001g0246 a0027c0048t0001g0150 a0031c0034t0015g0056	108	370	0.2919	-36	c.204 others(53): Show c.2046-797_2046-762delTGCGTGCGTGCACACGTGTATGTGTGTG TGTGCGTG	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DHX37_chr12_124941826_124994131	124961192	ACACACAC others(29): Show ACACACACATACACGTGTGCACGCACGCACACGCACG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0164 a0001c0015t0003g0165 a0001c0015t0003g0164 a0001c0015t0003g0165	2	370	0.0054	-36	c.204 others(53): Show c.2046-805_2046-770delCGTGCGTGTGCGTGCGTGCACACGTGTA TGTGTGTG	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DIAPH2_chrX_96679842_97609997	96962300	CATATATA others(29): Show CATATATATATACATATATATATACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 NA18522.hp1 others(1): Show HG02280.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0001t0001 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0012g0003 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0012g0003 a0001c0004t0001g0140	4	147	0.0272	-36	c.193 others(55): Show c.1936-2791_1936-2756delTATATATATACATATATATATACACA TATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579640	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	284	0.0035	-36	c.101 others(55): Show c.101-46334_101-46299delAAAATATATATATATATATATATATA TATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp2 NA18980.hp2 HG00438.hp1 HG01255.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0177 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0177	3	284	0.0106	-36	c.101 others(55): Show c.101-46332_101-46297delAATATATATATATATATATATATATA TATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01257.hp2 HG02027.hp1 others(7): Show HG00673.hp2 HG01257.hp2 HG02027.hp1 HG02486.hp1 HG03834.hp1 NA18946.hp1 NA18993.hp2 NA19005.hp1 NA19005.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0014 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0031 a0001c0003t0002 a0001c0003t0033 a0001c0011t0032	a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0144 others(7): Show a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0014g0052 a0001c0001t0014g0134 a0001c0001t0031g0153 a0001c0003t0002g0040 a0001c0003t0033g0060 a0001c0011t0032g0037	10	284	0.0352	-36	c.101 others(55): Show c.101-46292_101-46257delTATATATATATATATATATATATATA TATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	295560	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	-36	c.398 others(55): Show c.3987-7175_3987-7140delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	32/36			chr10	TogoVar
DIP2C_chr10_269201_694668	371142	CCACCATC others(29): Show CCACCATCCCCTCACCCTGCACCATCCCCTCACCCTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02132.hp2 HG02300.hp2 HG01515.hp2 HG02132.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0002 a0001c0001t0001 a0001c0012t0002	a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0012t0002g0052 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0012t0002g0052	3	88	0.0341	-36	c.199 others(55): Show c.1992-1545_1992-1510delCAGGGTGAGGGGATGGTGCAGGGTGA GGGGATGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	640661	GTGCGCGC others(29): Show GTGCGCGCGGGGATGAGGGTGCGCGCGGGGAAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-36	c.85+ others(53): Show c.85+48797_85+48832delGCCTCTTCCCCGCGCGCACCCTCATCCC CGCGCGCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	640679	GTGCGCGC others(29): Show GTGCGCGCGGGGAAGAGGCTGCGCGCGGGGAAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01258.hp1 others(16): Show HG00597.hp2 HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18962.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0018 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0009t0001 a0001c0018t0003 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0012 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0009t0001g0007 a0001c0018t0003g0011 a0001c0019t0006g0014	19	88	0.2159	-36	c.85+ others(53): Show c.85+48779_85+48814delGCCTCTTCCCCGCGCGCAGCCTCTTCCC CGCGCGCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1B_chr9_136707572_136729742	136718220	TGTGTGCT others(29): Show TGTGTGCTGGCCTCACTGGTCCGGGATAGAGACCCCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0002 a0008c0012t0001 a0001c0002t0002 a0008c0012t0001	a0001c0002t0002g0222 a0008c0012t0001g0068 a0001c0002t0002g0222 a0008c0012t0001g0068	2	422	0.0047	-36	c.198 others(51): Show c.198+558_198+593delCACTGGTCCGGGATAGAGACCCCCGTGTGC TGGCCT	DIPK1B	ENSG00000165716.11	transcript	ENST00000371692.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DLC1_chr8_13078361_13519851	13479831	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02109.hp1 others(9): Show HG01109.hp2 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 NA18522.hp2	a0006 a0009 a0020 others(1): Show a0006 a0009 a0020 a0021	a0006c0007 a0006c0017 a0009c0013 others(3): Show a0006c0007 a0006c0017 a0009c0013 a0009c0018 a0020c0033 a0021c0034	a0006c0007t0011 a0006c0007t0017 a0006c0007t0045 others(6): Show a0006c0007t0011 a0006c0007t0017 a0006c0007t0045 a0006c0007t0046 a0006c0017t0011 a0009c0013t0043 a0009c0018t0019 a0020c0033t0011 a0021c0034t0047	a0006c0007t0011g0038 a0006c0007t0017g0028 a0006c0007t0017g0029 others(9): Show a0006c0007t0011g0038 a0006c0007t0017g0028 a0006c0007t0017g0029 a0006c0007t0017g0030 a0006c0007t0045g0036 a0006c0007t0046g0032 a0006c0017t0011g0031 a0006c0017t0011g0033 a0009c0013t0043g0037 a0009c0018t0019g0035 a0020c0033t0011g0065 a0021c0034t0047g0034	12	212	0.0566	-36	c.102 others(57): Show c.1023+19182_1023+19217delCTTTTTCTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG2_chr11_83450173_85632344	84844099	ATATGTTT others(29): Show ATATGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0002 a0001c0002t0009g0002	1	14	0.0714	-36	c.357 others(57): Show c.357+267526_357+267561delCACACACACACACACACACACACA CACACAAACATA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	85357704	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	14	0.0714	-36	c.41- others(53): Show c.41-72375_41-72340delTATATATATATATATATATATATATATA TATATATA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLGAP1_chr18_3491032_4460307	3772342	CTCTCTCT others(29): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	80	0.0125	-36	c.117 others(57): Show c.1173-29866_1173-29831delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(29): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG02257.hp2 others(3): Show HG01106.hp1 HG01433.hp1 HG02257.hp2 HG02976.hp1 HG03579.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0027 a0001c0003t0019	a0001c0001t0001g0004 a0001c0001t0003g0067 a0001c0001t0003g0068 others(3): Show a0001c0001t0001g0004 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0018g0046 a0001c0001t0027g0024 a0001c0003t0019g0006	6	80	0.0750	-36	c.958 others(55): Show c.958-18893_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	751596	TAAGTTCA others(29): Show TAAGTTCATCTGACACTTTATAGTAAGTCCTTATAGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(4): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02698.hp2 HG03710.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0002c0004	a0001c0002t0006 a0001c0002t0010 a0001c0002t0023 others(4): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0023 a0001c0003t0013 a0001c0010t0025 a0002c0004t0003 a0002c0004t0018	a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0023g0005 others(4): Show a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0013g0007 a0001c0010t0025g0012 a0002c0004t0003g0009 a0002c0004t0018g0010	7	40	0.1750	-36	c.18+ others(53): Show c.18+13807_18+13842delGAAGTTCATCTGACACTTTATAGTAAGT CCTTATAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1013788	CGGCGCCT others(29): Show CGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-36	c.73+ others(55): Show c.73+105824_73+105859delGCGCCTCCACTGCGTGTGTGACCAGG ACAGACGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015290	AGACGGCG others(29): Show AGACGGCGCCTCCACTGTGTGTATGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-36	c.73+ others(55): Show c.73+107329_73+107364delGCGCCTCCACTGTGTGTATGACCAGG ACAGACGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039546	TGGTGTGC others(29): Show TGGTGTGCGTGGTCAGCTTGGTGTGCGTGGTCAGCTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	40	0.0500	-36	c.73+ others(55): Show c.73+131634_73+131669delTGGTGTGCGTGGTCAGCTCGGTGTGC GTGGTCAGCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1040168	TGTCAGCT others(29): Show TGTCAGCTCGGTTTCCATGGTCAGCTCAGTGTGCGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-36	c.73+ others(55): Show c.73+132214_73+132249delTTCCATGGTCAGCTCAGTGTGCGTGG TCAGCTCGGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36310180	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp2 others(5): Show HG00741.hp1 HG01167.hp1 HG01169.hp2 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0004 a0001c0005t0026 a0001c0006t0002	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 others(5): Show a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0006g0116 a0001c0001t0007g0004 a0001c0002t0004g0120 a0001c0005t0026g0003 a0001c0006t0002g0006	8	144	0.0556	-36	c.-30 others(55): Show c.-304+3696_-304+3731delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36380593	AAGAGAGA others(29): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0012 a0001c0001t0021 a0001c0002t0012	a0001c0001t0021g0114 a0001c0002t0012g0126 a0001c0001t0021g0114 a0001c0002t0012g0126	2	144	0.0139	-36	c.-73 others(55): Show c.-73+13354_-73+13389delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DMBT1_chr10_122555754_122648736	122634430	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02155.hp2 NA18939.hp2 others(1): Show HG02135.hp1 HG02155.hp2 NA18939.hp2 NA18964.hp1	a0002 a0083 a0002 a0083	a0002c0002 a0083c0079 a0002c0002 a0083c0079	a0002c0002t0001 a0083c0079t0001 a0002c0002t0001 a0083c0079t0001	a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0028 others(1): Show a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0028 a0083c0079t0001g0109	4	282	0.0142	-36	c.654 others(55): Show c.6548+1105_6548+1140delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMD_chrX_31114222_33216549	32554907	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0031 a0005c0007 a0010c0031	a0005c0007t0002 a0010c0031t0001 a0005c0007t0002 a0010c0031t0001	a0005c0007t0002g0093 a0010c0031t0001g0096 a0005c0007t0002g0093 a0010c0031t0001g0096	2	126	0.0159	-36	c.199 others(55): Show c.1993-9609_1993-9574delCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33008890	GTGTATAT others(29): Show GTGTATATATACACATACTCATATATGTATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	-36	c.93+ others(53): Show c.93+11213_93+11248delTGTATATATACATATATGAGTATGTGTA TATATACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009707	TATATGTG others(29): Show TATATGTGTATATGTGTGTATATGTGTATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02683.hp2 others(6): Show HG01099.hp1 HG01192.hp1 HG02683.hp2 HG03688.hp1 HG04199.hp1 NA18960.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 others(6): Show a0003 a0004 a0005 a0007 a0008 a0012 a0014 a0015 a0019	a0003c0003 a0004c0055 a0005c0007 others(6): Show a0003c0003 a0004c0055 a0005c0007 a0007c0018 a0008c0010 a0012c0048 a0014c0017 a0015c0043 a0019c0033	a0003c0003t0001 a0004c0055t0001 a0005c0007t0001 others(6): Show a0003c0003t0001 a0004c0055t0001 a0005c0007t0001 a0007c0018t0001 a0008c0010t0001 a0012c0048t0001 a0014c0017t0001 a0015c0043t0001 a0019c0033t0001	a0003c0003t0001g0027 a0004c0055t0001g0007 a0005c0007t0001g0120 others(6): Show a0003c0003t0001g0027 a0004c0055t0001g0007 a0005c0007t0001g0120 a0007c0018t0001g0099 a0008c0010t0001g0044 a0012c0048t0001g0057 a0014c0017t0001g0107 a0015c0043t0001g0112 a0019c0033t0001g0089	9	126	0.0714	-36	c.93+ others(53): Show c.93+10396_93+10431delGTGTGTATATACACATATACACACATAT ACACATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(29): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03139.hp1 others(1): Show HG02486.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0038 a0001c0001t0015 a0001c0001t0038	a0001c0001t0015g0035 a0001c0001t0015g0072 a0001c0001t0038g0133 a0001c0001t0015g0035 a0001c0001t0015g0072 a0001c0001t0038g0133	4	416	0.0096	-36	c.24 others(45): Show c.248_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	248		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55155277	GGCTGGGG others(29): Show GGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	398	0.0025	-36	c.37 others(47): Show c.3749_*3784delTCCTCCTCCCTCAGACCCTGGAGTCCAGGCCCCA GC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3387		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55155465	CCTGGACT others(29): Show CCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA19004.hp1 NA18960.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0126 a0001c0001t0001g0130	2	398	0.0050	-36	c.35 others(47): Show c.3561_*3596delTCCCCAGCCCCTCCTCCCTCAGACCCTGGAGTCC AG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3199		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55155909	TGGGTCTG others(29): Show TGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01261.hp1 HG02129.hp1 others(8): Show HG00544.hp1 HG01261.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03831.hp2 NA19012.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0003 a0006c0014 a0001c0004 a0002c0003 a0006c0014	a0001c0004t0001 a0002c0003t0001 a0006c0014t0001 a0001c0004t0001 a0002c0003t0001 a0006c0014t0001	a0001c0004t0001g0004 a0002c0003t0001g0024 a0002c0003t0001g0037 others(5): Show a0001c0004t0001g0004 a0002c0003t0001g0024 a0002c0003t0001g0037 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0092 a0006c0014t0001g0091	11	398	0.0276	-36	c.31 others(47): Show c.3117_*3152delTGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGAC CC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		2755		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55158139	TTCCCTCA others(29): Show TTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(186): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0011	a0001c0001 a0001c0004 a0001c0010 others(5): Show a0001c0001 a0001c0004 a0001c0010 a0002c0003 a0003c0002 a0005c0008 a0006c0014 a0011c0015	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0002c0003t0001 a0003c0002t0001 a0005c0008t0001 a0006c0014t0001 a0011c0015t0001	a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0122 others(71): Show a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0048 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0010t0001g0068 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0024 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0037 a0002c0003t0001g0041 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0092 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0105 a0002c0003t0001g0107 a0002c0003t0001g0118 a0002c0003t0001g0120 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158 a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0039 a0003c0002t0001g0040 a0003c0002t0001g0044 a0003c0002t0001g0076 a0003c0002t0001g0077 a0003c0002t0001g0080 a0003c0002t0001g0084 a0003c0002t0001g0086 a0003c0002t0001g0093 a0005c0008t0001g0038 a0006c0014t0001g0091 a0011c0015t0001g0085	189	398	0.4749	-36	c.88 others(45): Show c.887_*922delGGAGGGGCTGGGGCCTGGACTCTTGGGTCTGAGGGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		525		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55159777	GGGGGCCT others(29): Show GGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	398	0.0025	-36	c.116 others(52): Show c.1163+86_1163+121delAGCCCCTCCTTGCTTAGACCCAGGGGTCC AGGCCCC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	10/11			chr19	TogoVar
DNAAF6_chrX_107201611_107249247	107220925	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01261.hp1 others(6): Show HG00642.hp1 HG01074.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0147 a0001c0001t0002g0196 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0147 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0223	9	296	0.0304	-36	c.333 others(53): Show c.333-1818_333-1783delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAH14_chr1_224924675_225404286	225078823	TCCCTCTC others(29): Show TCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0004 a0007c0009t0001g0016 a0007c0009t0001g0004 a0007c0009t0001g0016	2	240	0.0083	-36	c.242 others(53): Show c.2425-382_2425-347delCCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCTCCC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225276967	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0059 a0059	a0059c0057 a0059c0057	a0059c0057t0001 a0059c0057t0001	a0059c0057t0001g0232 a0059c0057t0001g0232	1	240	0.0042	-36	c.817 others(53): Show c.8179-439_8179-404delAAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGGAGG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	53/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335709	GTATATAC others(29): Show GTATATACGCATATATACATATGTGCATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00741.hp1 others(3): Show HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG02004.hp2 HG03942.hp1	a0005 a0099 a0005 a0099	a0005c0005 a0005c0031 a0005c0041 others(1): Show a0005c0005 a0005c0031 a0005c0041 a0099c0103	a0005c0005t0001 a0005c0031t0001 a0005c0041t0001 others(1): Show a0005c0005t0001 a0005c0031t0001 a0005c0041t0001 a0099c0103t0001	a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0031t0001g0145 others(3): Show a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0031t0001g0145 a0005c0031t0001g0146 a0005c0041t0001g0125 a0099c0103t0001g0206	6	240	0.0250	-36	c.100 others(57): Show c.10081-1554_10081-1519delTATACGCATATATACATATGTGCA TATATGTATATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78433915	GGGAGGGA others(29): Show GGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01433.hp1 others(18): Show HG01106.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02132.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 NA18939.hp1 NA18984.hp2 NA19240.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0011 a0028 a0056 a0058 a0065 a0091 a0096 a0115 a0122	a0001c0114 a0001c0208 a0002c0094 others(15): Show a0001c0114 a0001c0208 a0002c0094 a0003c0006 a0003c0014 a0003c0083 a0004c0011 a0004c0081 a0007c0223 a0011c0207 a0028c0200 a0056c0112 a0058c0127 a0065c0068 a0091c0214 a0096c0180 a0115c0222 a0122c0198	a0001c0114t0001 a0001c0208t0001 a0002c0094t0001 others(15): Show a0001c0114t0001 a0001c0208t0001 a0002c0094t0001 a0003c0006t0001 a0003c0014t0001 a0003c0083t0001 a0004c0011t0001 a0004c0081t0001 a0007c0223t0001 a0011c0207t0001 a0028c0200t0001 a0056c0112t0001 a0058c0127t0001 a0065c0068t0001 a0091c0214t0001 a0096c0180t0001 a0115c0222t0001 a0122c0198t0001	a0001c0114t0001g0154 a0001c0208t0001g0065 a0002c0094t0001g0173 others(18): Show a0001c0114t0001g0154 a0001c0208t0001g0065 a0002c0094t0001g0173 a0003c0006t0001g0148 a0003c0006t0001g0149 a0003c0014t0001g0014 a0003c0014t0001g0015 a0003c0083t0001g0152 a0004c0011t0001g0027 a0004c0011t0001g0028 a0004c0081t0001g0024 a0007c0223t0001g0121 a0011c0207t0001g0117 a0028c0200t0001g0046 a0056c0112t0001g0072 a0058c0127t0001g0090 a0065c0068t0001g0198 a0091c0214t0001g0137 a0096c0180t0001g0230 a0115c0222t0001g0128 a0122c0198t0001g0235	21	252	0.0833	-36	c.122 others(54): Show c.12225+78_12225+113delTTCCCTCCCTCCTTCCCTCCCTCCTTC CTTCCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78478666	CATCACTA others(29): Show CATCACTACCACCATCATCACAATTATTACCATCATT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01884.hp1 others(13): Show HG01123.hp2 HG01261.hp2 HG01884.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 others(12): Show a0001 a0004 a0005 a0011 a0024 a0027 a0074 a0076 a0094 a0103 a0114 a0115 a0132 a0133 a0140	a0001c0113 a0004c0081 a0005c0053 others(13): Show a0001c0113 a0004c0081 a0005c0053 a0005c0226 a0011c0207 a0024c0018 a0027c0028 a0074c0106 a0076c0221 a0094c0093 a0103c0075 a0114c0146 a0115c0222 a0132c0224 a0133c0202 a0140c0225	a0001c0113t0001 a0004c0081t0001 a0005c0053t0001 others(13): Show a0001c0113t0001 a0004c0081t0001 a0005c0053t0001 a0005c0226t0002 a0011c0207t0001 a0024c0018t0001 a0027c0028t0001 a0074c0106t0001 a0076c0221t0001 a0094c0093t0001 a0103c0075t0001 a0114c0146t0001 a0115c0222t0001 a0132c0224t0001 a0133c0202t0002 a0140c0225t0001	a0001c0113t0001g0098 a0004c0081t0001g0024 a0005c0053t0001g0176 others(13): Show a0001c0113t0001g0098 a0004c0081t0001g0024 a0005c0053t0001g0176 a0005c0226t0002g0079 a0011c0207t0001g0117 a0024c0018t0001g0012 a0027c0028t0001g0116 a0074c0106t0001g0103 a0076c0221t0001g0139 a0094c0093t0001g0089 a0103c0075t0001g0011 a0114c0146t0001g0131 a0115c0222t0001g0128 a0132c0224t0001g0120 a0133c0202t0002g0119 a0140c0225t0001g0006	16	252	0.0635	-36	c.799 others(53): Show c.7992+323_7992+358delAATGATGGTAATAATTGTGATGATGGTG GTAGTGAT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301874	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	398	0.0025	-36	c.987 others(51): Show c.987+742_987+777delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74302034	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18983.hp1 NA18971.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	398	0.0050	-36	c.987 others(51): Show c.987+902_987+937delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI4_chr1_66807885_66929856	66836190	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0171 a0002c0002t0004g0171	1	264	0.0038	-36	c.158 others(53): Show c.1582-449_1582-414delCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	10/16			chr1	TogoVar
DNAJB12_chr10_72327863_72359919	72356829	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0051 a0001c0001t0003g0054	2	292	0.0069	-36	c.-19 others(47): Show c.-1968_-1933delATATATATATATATATATATATATATATATATAT AT	DNAJB12	ENSG00000148719.16	transcript	ENST00000444643.8	protein_coding		1911		chr10	TogoVar

Search by Variant

Search

Search Results (Total: 3870 hits)