regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF99_chr19_22747183_22789151 | 22772494 | CATGGAGA others(23): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 344 | 0.0029 | -30 | c.4-3 others(43): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22776408 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG02895.hp1 HG02897.hp1 others(4): Show |
a0000a0003a0009 | a0000c0005a0003c0003a0009c0010 | a0000c0005t0008a0003c0003t0004a0003c0003t0025others(1): Show | a0000c0005t0008g0054a0000c0005t0008g0055a0000c0005t0008g0068others(4): Show | 7 | 344 | 0.0204 | -30 | c.4-7 others(43): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNRF3_chr22_28878572_29062488 | 28937191 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071a0001c0002t0002g0072a0001c0002t0002g0073others(1): Show | 4 | 270 | 0.0148 | -30 | c.301 others(49): Show |
ZNRF3 | ENSG00000183579.16 | transcript | ENST00000544604.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ZNRF3_chr22_28878572_29062488 | 28937193 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01517.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0014a0001c0004t0001others(2): Show | a0001c0002t0001g0092a0001c0002t0014g0076a0001c0002t0014g0079others(3): Show | 6 | 270 | 0.0222 | -30 | c.301 others(49): Show |
ZNRF3 | ENSG00000183579.16 | transcript | ENST00000544604.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ZNRF3_chr22_28878572_29062488 | 28937195 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(38): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0143a0001c0001t0001g0156a0001c0001t0001g0164others(38): Show | 41 | 270 | 0.1519 | -30 | c.301 others(49): Show |
ZNRF3 | ENSG00000183579.16 | transcript | ENST00000544604.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ZNRF3_chr22_28878572_29062488 | 28937197 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00735.hp1 others(10): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0023a0001c0002t0001g0066a0001c0002t0002g0077others(10): Show | 13 | 270 | 0.0482 | -30 | c.301 others(49): Show |
ZNRF3 | ENSG00000183579.16 | transcript | ENST00000544604.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ZP4_chr1_237877404_237895922 | 237883708 | GGAGGGCG others(23): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03490.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0004 | a0001c0001t0001g0016a0001c0001t0001g0099a0001c0008t0004g0400 | 4 | 448 | 0.0089 | -30 | c.139 others(47): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZP4_chr1_237877404_237895922 | 237883967 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0041 | 1 | 448 | 0.0022 | -30 | c.139 others(47): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZP4_chr1_237877404_237895922 | 237884003 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0103others(6): Show | 13 | 448 | 0.0290 | -30 | c.139 others(47): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZPBP_chr7_49932441_50098246 | 49970466 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0127others(1): Show | 4 | 278 | 0.0144 | -30 | c.961 others(49): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
ZRANB1_chr10_124937123_124993189 | 124986281 | GCGCGCGC others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01346.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0160a0001c0001t0012g0161a0001c0001t0012g0162others(2): Show | 5 | 338 | 0.0148 | -30 | c.*12 others(41): Show |
ZRANB1 | ENSG00000019995.6 | transcript | ENST00000359653.4 | protein_coding | 9/9 | 1291 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ZRANB3_chr2_135191969_135536218 | 135366197 | TAATTAAA others(23): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0195a0002c0007t0007g0196a0002c0007t0007g0197others(2): Show | 5 | 214 | 0.0234 | -30 | c.181 others(49): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 3/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135426851 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03130.hp2 |
a0006 | a0006c0009 | a0006c0009t0011 | a0006c0009t0011g0210a0006c0009t0011g0211 | 2 | 214 | 0.0094 | -30 | c.162 others(49): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135426861 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0005t0004 | a0001c0001t0016g0214a0001c0005t0004g0089a0001c0005t0004g0098 | 3 | 214 | 0.0140 | -30 | c.162 others(49): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135493098 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0005t0004a0002c0007t0007 | a0001c0001t0001g0162a0001c0005t0004g0105a0002c0007t0007g0197others(1): Show | 4 | 214 | 0.0187 | -30 | c.161 others(49): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZSCAN23_chr6_28427655_28448491 | 28440524 | ATATCAAA others(23): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 434 | 0.0023 | -30 | c.-78 others(47): Show |
ZSCAN23 | ENSG00000187987.10 | transcript | ENST00000289788.5 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
ZSCAN2_chr15_84596009_84628716 | 84609288 | TATATGAT others(23): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0105a0001c0001t0009g0106a0001c0001t0017g0166 | 3 | 408 | 0.0074 | -30 | c.406 others(47): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ZSWIM5_chr1_45011399_45211605 | 45044738 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0200 | 1 | 234 | 0.0043 | -30 | c.143 others(49): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
ZSWIM6_chr5_61327258_61551172 | 61332326 | GGGCGGCG others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG00642.hp1 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0037 | 1 | 276 | 0.0036 | -30 | c.71_ others(36): Show |
p.Gly others(11): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 1/14 | 86/5518 | 71/3648 | 24/1215 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
ZWILCH_chr15_66500326_66555130 | 66509822 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02451.hp1 HG02602.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0009a0002c0002t0001g0143a0002c0002t0001g0144others(1): Show | 6 | 410 | 0.0146 | -30 | c.105 others(45): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ZYG11A_chr1_52837760_52899998 | 52846310 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 290 | 0.0035 | -30 | c.90+ others(45): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52803093 | TATATACA others(23): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0219 | 1 | 352 | 0.0028 | -30 | c.169 others(47): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817795 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0286 | 1 | 352 | 0.0028 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817803 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02145.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0270a0001c0001t0002g0273a0001c0001t0005g0199others(3): Show | 6 | 352 | 0.0171 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817805 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0271 | 1 | 352 | 0.0028 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817807 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02523.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0094a0001c0001t0007g0114a0001c0001t0010g0196others(3): Show | 6 | 352 | 0.0171 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817809 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026a0001c0001t0069 | a0001c0001t0007g0059a0001c0001t0007g0106a0001c0001t0007g0107others(6): Show | 9 | 352 | 0.0256 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817811 | ATATATTT others(23): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0116 | 1 | 352 | 0.0028 | -30 | c.204 others(49): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYX_chr7_143376345_143396111 | 143385973 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | 454 | 0.0044 | -30 | c.102 others(49): Show |
ZYX | ENSG00000159840.16 | transcript | ENST00000322764.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZZEF1_chr17_3999445_4148030 | 4086274 | TTTCCCAC others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(223): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0016a0001c0047others(45): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(64): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0029others(222): Show | 226 | 296 | 0.7635 | -30 | c.251 others(47): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 15/54 | chr17 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4112033 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02970.hp2 HG03453.hp2 others(2): Show |
a0002a0005 | a0002c0052a0005c0005a0005c0058 | a0002c0052t0003a0005c0005t0007a0005c0005t0011others(1): Show | a0002c0052t0003g0028a0005c0005t0007g0015a0005c0005t0011g0249others(2): Show | 5 | 296 | 0.0169 | -30 | c.106 others(47): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 5/54 | chr17 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4123268 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01070.hp2 others(62): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(17): Show | a0001c0001t0001g0056a0002c0002t0001g0147a0002c0002t0001g0148others(62): Show | 65 | 296 | 0.2196 | -30 | c.499 others(45): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 2/54 | chr17 | TogoVar |