view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZSCAN18_chr19_58078856_58103231 | 58099964 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01952.hp1 HG01981.hp1 HG02602.hp2 others(7): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0220 a0001c0001t0001g0322 others(7): Show |
10 | 462 | 0.0217 | 7 | c.-19 others(18): Show |
ZSCAN18 | ENSG00000121413.13 | transcript | ENST00000601144.6 | protein_coding | 1734 | chr19 | TogoVar | |||||||
ZSCAN20_chr1_33467645_33506643 | 33490684 | C | CACACACA | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG01981.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0007a0004c0008others(1): Show | a0001c0001t0003a0001c0001t0007a0003c0007t0067others(2): Show | a0001c0001t0003g0016 a0001c0001t0003g0071 a0001c0001t0003g0079 others(4): Show |
9 | 422 | 0.0213 | 7 | c.767 others(22): Show |
ZSCAN20 | ENSG00000121903.15 | transcript | ENST00000684572.1 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
ZSCAN21_chr7_100044774_100070040 | 100051178 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp2 HG02165.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 others(8): Show |
11 | 392 | 0.0281 | 7 | c.-97 others(24): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZSCAN21_chr7_100044774_100070040 | 100053545 | A | ACATACAT | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0028 a0001c0001t0002g0266 a0001c0001t0002g0267 others(4): Show |
8 | 392 | 0.0204 | 7 | c.-96 others(24): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZSCAN23_chr6_28427655_28448491 | 28445351 | C | CTATATAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp1 others(55): Show |
a0001a0006 | a0001c0002a0006c0004 | a0001c0002t0004a0001c0002t0014a0006c0004t0004 | a0001c0002t0004g0004 a0001c0002t0004g0009 a0001c0002t0004g0015 others(11): Show |
58 | 434 | 0.1336 | 7 | c.-20 others(18): Show |
ZSCAN23 | ENSG00000187987.10 | transcript | ENST00000289788.5 | protein_coding | 1861 | chr6 | TogoVar | |||||||
ZSCAN30_chr18_35246062_35295229 | 35294471 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01256.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0172 others(10): Show |
16 | 384 | 0.0417 | 7 | c.-44 others(18): Show |
ZSCAN30 | ENSG00000186814.15 | transcript | ENST00000333206.10 | protein_coding | 4243 | chr18 | TogoVar | |||||||
ZSWIM1_chr20_45876227_45890266 | 45879880 | C | CTTTTTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0001 others(37): Show |
208 | 404 | 0.5149 | 7 | c.-14 others(18): Show |
ZSWIM1 | ENSG00000168612.5 | transcript | ENST00000372523.1 | protein_coding | 1346 | chr20 | TogoVar | |||||||
ZSWIM3_chr20_45852614_45884122 | 45879880 | C | CTTTTTGT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(191): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0008 others(139): Show |
194 | 386 | 0.5026 | 7 | c.*12 others(18): Show |
ZSWIM3 | ENSG00000132801.7 | transcript | ENST00000255152.3 | protein_coding | 759 | chr20 | TogoVar | |||||||
ZSWIM4_chr19_13790443_13837254 | 13800065 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01346.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0019others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0326 a0001c0002t0001g0044 a0001c0002t0001g0045 others(12): Show |
15 | 356 | 0.0421 | 7 | c.355 others(22): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM4_chr19_13790443_13837254 | 13832230 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG03139.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0014 | a0001c0001t0010a0001c0001t0028a0001c0002t0010others(2): Show | a0001c0001t0010g0004 a0001c0001t0010g0026 a0001c0001t0010g0028 others(5): Show |
8 | 356 | 0.0225 | 7 | c.*11 others(18): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 14/14 | 1161 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZSWIM5_chr1_45011399_45211605 | 45067451 | A | AAAAAAAG | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004 | a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0067 others(2): Show |
5 | 234 | 0.0214 | 7 | c.953 others(24): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ZSWIM6_chr5_61327258_61551172 | 61517935 | T | TCCCTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(124): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0029others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0080 a0001c0001t0001g0081 others(123): Show |
127 | 276 | 0.4601 | 7 | c.133 others(26): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15976145 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02280.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0021 |
3 | 344 | 0.0087 | 7 | c.*19 others(18): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 414 | chr17 | TogoVar | |||||||
ZSWIM9_chr19_48165680_48202620 | 48192470 | A | ATATATAT | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp1 HG02683.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 a0001c0002t0001g0300 a0001c0002t0001g0336 |
3 | 388 | 0.0077 | 7 | c.589 others(24): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZSWIM9_chr19_48165680_48202620 | 48192474 | A | ATATATAT | intron_variant | MODIFIER | HG01346.hp2 HG01978.hp2 HG02027.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0279 others(2): Show |
5 | 388 | 0.0129 | 7 | c.589 others(24): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZWILCH_chr15_66500326_66555130 | 66544724 | T | TGTGTGTG | intron_variant | MODIFIER | HG03209.hp1 HG03710.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0240 others(1): Show |
4 | 410 | 0.0098 | 7 | c.168 others(26): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 17/18 | chr15 | TogoVar | |||||||
ZXDA_chrX_57900430_57915458 | 57904891 | T | TATATATA | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 320 | 0.0031 | 7 | c.*31 others(18): Show |
ZXDA | ENSG00000198205.7 | transcript | ENST00000358697.6 | protein_coding | 538 | chrX | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52721559 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(112): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(112): Show |
115 | 352 | 0.3267 | 7 | c.-50 others(18): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4893 | chr1 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52738985 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(78): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(16): Show | a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 others(78): Show |
81 | 352 | 0.2301 | 7 | c.30+ others(24): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52741298 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0046 others(35): Show |
38 | 352 | 0.1080 | 7 | c.30+ others(24): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52746687 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01433.hp1 HG01943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(10): Show |
13 | 352 | 0.0369 | 7 | c.31- others(22): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52773628 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01346.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0118 others(5): Show |
8 | 352 | 0.0227 | 7 | c.951 others(24): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4010724 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(123): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0049a0001c0051others(22): Show | a0001c0001t0001a0001c0001t0023a0001c0001t0025others(27): Show | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 others(123): Show |
126 | 296 | 0.4257 | 7 | c.858 others(24): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 52/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4024186 | G | GTTTTTTT | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG01975.hp2 others(17): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 others(17): Show |
20 | 296 | 0.0676 | 7 | c.709 others(24): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 43/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4027286 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01070.hp2 others(30): Show |
a0002a0008a0015others(2): Show | a0002c0002a0002c0004a0002c0012others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0152 others(30): Show |
33 | 296 | 0.1115 | 7 | c.689 others(26): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 42/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4097926 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01106.hp2 others(21): Show |
a0003a0015a0018others(1): Show | a0003c0003a0003c0036a0015c0015others(2): Show | a0003c0003t0004a0003c0003t0010a0003c0003t0013others(4): Show | a0003c0003t0004g0261 a0003c0003t0004g0264 a0003c0003t0004g0265 others(21): Show |
24 | 296 | 0.0811 | 7 | c.167 others(26): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 9/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4117648 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01169.hp1 HG01169.hp2 others(17): Show |
a0003a0005a0006others(6): Show | a0003c0003a0005c0025a0005c0059others(11): Show | a0003c0003t0004a0005c0025t0003a0005c0059t0003others(12): Show | a0003c0003t0004g0263 a0003c0003t0004g0277 a0003c0003t0004g0287 others(17): Show |
20 | 296 | 0.0676 | 7 | c.500 others(22): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 2/54 | chr17 | TogoVar |