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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZPBP_chr7_49932441_50098246 | 49982207 | A | ATATTTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(70): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0045 others(69): Show |
73 | 278 | 0.2626 | 9 | c.961 others(26): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 49982209 | A | ATTTATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(133): Show |
138 | 278 | 0.4964 | 9 | c.961 others(26): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135245926 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02300.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0020a0002c0002t0002others(4): Show | a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0020g0190 others(6): Show |
9 | 214 | 0.0421 | 9 | c.154 others(30): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 12/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135287670 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp2 others(40): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0003a0003c0004others(3): Show | a0002c0002t0002a0002c0003t0003a0002c0003t0008others(5): Show | a0002c0002t0002g0023 a0002c0002t0002g0043 a0002c0002t0002g0209 others(40): Show |
43 | 214 | 0.2009 | 9 | c.967 others(28): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 8/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135398521 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02895.hp2 HG02897.hp1 others(4): Show |
a0002a0003a0010 | a0002c0007a0003c0004a0010c0014 | a0002c0007t0007a0003c0004t0010a0010c0014t0002 | a0002c0007t0007g0195 a0002c0007t0007g0196 a0002c0007t0007g0197 others(4): Show |
7 | 214 | 0.0327 | 9 | c.162 others(26): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ZSCAN12_chr6_28379738_28404747 | 28398932 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(102): Show |
a0002a0005a0007 | a0002c0002a0005c0006a0007c0009 | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(8): Show | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0017 others(29): Show |
105 | 432 | 0.2431 | 9 | c.-68 others(24): Show |
ZSCAN12 | ENSG00000158691.15 | transcript | ENST00000684592.1 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
ZSCAN21_chr7_100044774_100070040 | 100053544 | T | TACATACA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG01928.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0003a0001c0001t0007a0001c0003t0003others(1): Show | a0001c0001t0003g0102 a0001c0001t0003g0200 a0001c0001t0003g0210 others(11): Show |
14 | 392 | 0.0357 | 9 | c.-96 others(26): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZSCAN21_chr7_100044774_100070040 | 100053545 | A | ACATACAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01099.hp1 others(38): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0026 others(28): Show |
41 | 392 | 0.1046 | 9 | c.-96 others(26): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58331518 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02040.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0094 others(2): Show |
8 | 400 | 0.0200 | 9 | c.-51 others(26): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSCAN5A_chr19_56216303_56319839 | 56231996 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0251 others(5): Show |
8 | 362 | 0.0221 | 9 | c.-12 others(28): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56231996 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01256.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0002others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0080 others(17): Show |
20 | 362 | 0.0553 | 9 | c.-12 others(28): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56319498 | G | GAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00733.hp1 others(43): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 others(43): Show |
46 | 362 | 0.1271 | 9 | c.-50 others(20): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 4660 | chr19 | TogoVar | |||||||
ZSWIM4_chr19_13790443_13837254 | 13800065 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01081.hp2 others(81): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0268 others(81): Show |
84 | 356 | 0.2360 | 9 | c.355 others(24): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM6_chr5_61327258_61551172 | 61357781 | C | CATCCTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp2 others(15): Show |
a0001a0017 | a0001c0001a0001c0027a0017c0019 | a0001c0001t0001a0001c0001t0002a0001c0027t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0069 others(15): Show |
18 | 276 | 0.0652 | 9 | c.676 others(28): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZSWIM6_chr5_61327258_61551172 | 61500100 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01433.hp1 HG02486.hp2 others(7): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0004a0012c0038others(1): Show | a0001c0001t0001a0002c0004t0003a0012c0038t0003others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0136 others(7): Show |
10 | 276 | 0.0362 | 9 | c.133 others(28): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZSWIM9_chr19_48165680_48202620 | 48187559 | A | ATTATTAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02717.hp1 others(1): Show |
a0003 | a0003c0007a0003c0015 | a0003c0007t0001a0003c0015t0001 | a0003c0007t0001g0221 a0003c0007t0001g0222 a0003c0007t0001g0258 others(1): Show |
4 | 388 | 0.0103 | 9 | c.588 others(26): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM9_chr19_48165680_48202620 | 48192478 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18941.hp1 NA18974.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0357 |
3 | 388 | 0.0077 | 9 | c.589 others(26): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZSWIM9_chr19_48165680_48202620 | 48192480 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0049 a0001c0002t0001g0305 a0001c0002t0001g0330 others(5): Show |
8 | 388 | 0.0206 | 9 | c.589 others(26): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZWILCH_chr15_66500326_66555130 | 66544724 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00733.hp1 others(57): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0010a0007c0010t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(54): Show |
60 | 410 | 0.1463 | 9 | c.168 others(28): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 17/18 | chr15 | TogoVar | |||||||
ZXDB_chrX_57587011_57602477 | 57592099 | C | CGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp2 HG01168.hp1 HG01169.hp2 others(9): Show |
a0002a0007 | a0002c0003a0007c0018 | a0002c0003t0001a0007c0018t0001 | a0002c0003t0001g0000 a0007c0018t0001g0000 |
12 | 297 | 0.0404 | 9 | c.52_ others(14): Show |
p.Gly others(11): Show |
ZXDB | ENSG00000198455.5 | transcript | ENST00000374888.3 | protein_coding | 1/1 | 99/5467 | 61/2412 | 21/803 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ZYG11B_chr1_52721453_52832336 | 52721559 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01255.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0090 a0001c0001t0001g0133 a0001c0001t0002g0281 others(5): Show |
8 | 352 | 0.0227 | 9 | c.-50 others(20): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4893 | chr1 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52741298 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01993.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0034others(1): Show | a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 others(6): Show |
9 | 352 | 0.0256 | 9 | c.30+ others(26): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52746687 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 others(43): Show |
46 | 352 | 0.1307 | 9 | c.31- others(24): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52776229 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(10): Show | a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 others(55): Show |
58 | 352 | 0.1648 | 9 | c.952 others(26): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYX_chr7_143376345_143396111 | 143385660 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01928.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0143 others(2): Show |
7 | 454 | 0.0154 | 9 | c.102 others(28): Show |
ZYX | ENSG00000159840.16 | transcript | ENST00000322764.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4010724 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00733.hp1 others(57): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0050a0002c0002others(18): Show | a0001c0001t0003a0001c0050t0003a0002c0002t0003others(22): Show | a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 others(56): Show |
60 | 296 | 0.2027 | 9 | c.858 others(26): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 52/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4024186 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01070.hp2 others(24): Show |
a0002a0008a0015others(2): Show | a0002c0002a0002c0004a0002c0012others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0195 a0002c0002t0002g0151 a0002c0002t0002g0164 others(24): Show |
27 | 296 | 0.0912 | 9 | c.709 others(26): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 43/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4027286 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02135.hp1 HG02258.hp2 others(12): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0005a0004c0064others(3): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0006others(4): Show | a0002c0002t0001g0195 a0002c0002t0002g0181 a0002c0002t0002g0182 others(12): Show |
15 | 296 | 0.0507 | 9 | c.689 others(28): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 42/54 | chr17 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4117648 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02080.hp2 HG03041.hp1 others(3): Show |
a0003a0006 | a0003c0003a0006c0019 | a0003c0003t0004a0006c0019t0003 | a0003c0003t0004g0265 a0003c0003t0004g0275 a0003c0003t0004g0284 others(3): Show |
6 | 296 | 0.0203 | 9 | c.500 others(24): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 2/54 | chr17 | TogoVar |