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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERG_chr21_38375036_38503477 | 38418270 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01106.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0149a0001c0001t0001g0158a0001c0001t0001g0202others(30): Show | 33 | 360 | 0.0917 | 8 | c.388 others(25): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38423084 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG04204.hp2 NA19086.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0168a0001c0001t0002g0180a0001c0001t0003g0056others(1): Show | 4 | 360 | 0.0111 | 8 | c.388 others(23): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38429395 | A | ATACACAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(61): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0086others(60): Show | 64 | 360 | 0.1778 | 8 | c.237 others(25): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38466300 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01243.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0059a0001c0001t0001g0070a0001c0001t0001g0074others(21): Show | 24 | 360 | 0.0667 | 8 | c.19- others(25): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38468982 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02074.hp2 HG02135.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0175a0001c0001t0001g0176others(11): Show | 14 | 360 | 0.0389 | 8 | c.19- others(25): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERH_chr14_69375128_69403299 | 69387695 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(55): Show | 113 | 398 | 0.2839 | 8 | c.92- others(21): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 8999118 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01993.hp2 others(6): Show |
a0000a0001 | a0000c0001a0001c0002 | a0000c0001t0001a0001c0002t0006 | a0000c0001t0001g0001a0000c0001t0001g0147a0000c0001t0001g0215others(6): Show | 9 | 426 | 0.0211 | 8 | c.-39 others(19): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3778 | chr8 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9005658 | G | GCGCCCGC others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG01891.hp1 others(21): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0014a0001c0004t0009a0001c0004t0041others(9): Show | a0001c0002t0014g0014a0001c0002t0014g0098a0001c0002t0014g0099others(20): Show | 24 | 426 | 0.0563 | 8 | c.109 others(25): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI1_chr8_8997897_9038338 | 9015722 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01175.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0027a0001c0002t0028others(1): Show | a0001c0002t0004g0015a0001c0002t0004g0056a0001c0002t0004g0057others(8): Show | 11 | 426 | 0.0258 | 8 | c.499 others(23): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI1_chr8_8997897_9038338 | 9027136 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0006a0001c0002t0011a0003c0007t0023others(1): Show | a0001c0002t0006g0026a0001c0002t0006g0288a0001c0002t0006g0291others(5): Show | 9 | 426 | 0.0211 | 8 | c.808 others(25): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI3_chr1_44216070_44360257 | 44226778 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00733.hp1 others(52): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0147a0001c0001t0001g0150a0001c0001t0001g0151others(52): Show | 55 | 340 | 0.1618 | 8 | c.932 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44241805 | C | CACATACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0104a0001c0001t0001g0119a0001c0001t0001g0124others(19): Show | 22 | 340 | 0.0647 | 8 | c.931 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44248702 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0108a0001c0001t0001g0121a0001c0001t0001g0124others(56): Show | 59 | 340 | 0.1735 | 8 | c.832 others(23): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259689 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(34): Show | 37 | 340 | 0.1088 | 8 | c.832 others(27): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259875 | C | CTAGATAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00738.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0030others(24): Show | 27 | 340 | 0.0794 | 8 | c.832 others(27): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259916 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19056.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0334a0001c0001t0001g0339 | 3 | 340 | 0.0088 | 8 | c.832 others(27): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259920 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01167.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0031a0001c0001t0001g0060others(15): Show | 18 | 340 | 0.0529 | 8 | c.832 others(27): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44281878 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01934.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0111a0001c0001t0001g0130others(6): Show | 9 | 340 | 0.0265 | 8 | c.831 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44310951 | T | TCGCGCGC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0029others(4): Show | 7 | 340 | 0.0206 | 8 | c.666 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44317144 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG01978.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(15): Show | 18 | 340 | 0.0529 | 8 | c.606 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44344233 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0158a0001c0001t0001g0184others(5): Show | 8 | 340 | 0.0235 | 8 | c.212 others(25): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700182 | C | CGCACAGA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 HG03516.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0238a0005c0007t0001g0239a0005c0007t0001g0240 | 3 | 378 | 0.0079 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700237 | C | CCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02886.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0216a0001c0001t0001g0222a0001c0001t0001g0228others(6): Show | 9 | 378 | 0.0238 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700280 | G | GAGCCGCA others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0075a0001c0001t0001g0086others(5): Show | 8 | 378 | 0.0212 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700280 | G | GGCCCGCA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079a0001c0001t0001g0216a0001c0001t0001g0228others(1): Show | 4 | 378 | 0.0106 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700283 | C | CCGCACAG others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0222a0001c0001t0002g0253a0001c0003t0001g0224 | 3 | 378 | 0.0079 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700291 | G | GCGCACAG others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03471.hp1 others(1): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0002a0005c0007t0001 | a0003c0004t0002g0291a0005c0007t0001g0238a0005c0007t0001g0239others(1): Show | 4 | 378 | 0.0106 | 8 | c.170 others(25): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 733550 | C | CAGAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp2 NA19003.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0339a0001c0003t0002g0296a0001c0003t0002g0302others(3): Show | 6 | 378 | 0.0159 | 8 | c.-23 others(19): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2327 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170766464 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(124): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(64): Show | 127 | 390 | 0.3256 | 8 | c.-42 others(19): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 3913 | chr2 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170791527 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(126): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0004c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(69): Show | 129 | 390 | 0.3308 | 8 | c.105 others(27): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH2_chr2_170765378_170803977 | 170791533 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0007t0001a0002c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(36): Show | 79 | 390 | 0.2026 | 8 | c.105 others(27): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH3_chr1_74563123_74678792 | 74594273 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02280.hp1 others(5): Show |
a0003a0007a0008others(1): Show | a0003c0003a0007c0009a0008c0027others(1): Show | a0003c0003t0001a0003c0003t0002a0007c0009t0005others(2): Show | a0003c0003t0001g0208a0003c0003t0002g0191a0007c0009t0005g0017others(5): Show | 8 | 290 | 0.0276 | 8 | c.172 others(27): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ERICH3_chr1_74563123_74678792 | 74646889 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01952.hp1 HG01975.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044a0002c0002t0001g0063a0002c0002t0001g0097others(3): Show | 6 | 290 | 0.0207 | 8 | c.118 others(22): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
ERICH3_chr1_74563123_74678792 | 74650834 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA18612.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0002a0003c0003t0001a0004c0005t0001 | a0001c0001t0002g0218a0001c0001t0002g0255a0003c0003t0001g0101others(1): Show | 4 | 290 | 0.0138 | 8 | c.24- others(23): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091836 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02071.hp1 HG02132.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0116a0001c0001t0001g0204others(13): Show | 16 | 442 | 0.0362 | 8 | c.101 others(27): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0098a0001c0001t0002g0137others(7): Show | 10 | 442 | 0.0226 | 8 | c.101 others(27): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03669.hp2 NA18979.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0001g0114a0001c0001t0001g0156others(4): Show | 7 | 442 | 0.0158 | 8 | c.101 others(27): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0117a0001c0001t0001g0144others(16): Show | 19 | 442 | 0.0430 | 8 | c.101 others(27): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45606505 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18973.hp1 NA19084.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0044a0001c0001t0001g0093a0003c0003t0001g0183 | 3 | 326 | 0.0092 | 8 | c.-59 others(25): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150655700 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG01978.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(3): Show | a0001c0002t0001g0262a0001c0003t0001g0159a0002c0001t0001g0031others(7): Show | 10 | 348 | 0.0287 | 8 | c.*41 others(19): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 4184 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150655725 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01243.hp1 HG02015.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0001a0003c0004others(3): Show | a0001c0003t0001a0002c0001t0002a0003c0004t0002others(3): Show | a0001c0003t0001g0140a0002c0001t0002g0036a0003c0004t0002g0182others(8): Show | 12 | 348 | 0.0345 | 8 | c.*41 others(19): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 4159 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150695777 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207a0001c0002t0001g0213a0001c0002t0001g0217others(1): Show | 4 | 348 | 0.0115 | 8 | c.553 others(25): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 3/13 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150702889 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 NA19043.hp2 others(1): Show |
a0002a0004a0007others(1): Show | a0002c0001a0004c0005a0007c0010others(1): Show | a0002c0001t0001a0004c0005t0001a0007c0010t0001others(1): Show | a0002c0001t0001g0029a0004c0005t0001g0027a0007c0010t0001g0016others(1): Show | 4 | 348 | 0.0115 | 8 | c.403 others(23): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
ERLIN2_chr8_37731634_37763422 | 37734461 | C | CAGGAAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(21): Show | 41 | 224 | 0.1830 | 8 | c.-22 others(19): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 2172 | chr8 | TogoVar | ||||||
ERMAP_chr1_42812122_42849991 | 42819170 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0189a0001c0001t0003g0191a0001c0001t0004g0043others(2): Show | 6 | 386 | 0.0155 | 8 | c.-12 others(27): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ERMP1_chr9_5779572_5838117 | 5834703 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00621.hp1 others(55): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0191others(43): Show | 58 | 378 | 0.1534 | 8 | c.-16 others(19): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1587 | chr9 | TogoVar | ||||||
ERMP1_chr9_5779572_5838117 | 5834959 | T | TGATAGAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(69): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0033others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0191a0001c0001t0002g0010others(58): Show | 72 | 378 | 0.1905 | 8 | c.-19 others(19): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1843 | chr9 | TogoVar | ||||||
ERMP1_chr9_5779572_5838117 | 5835350 | A | ACGCGCGC others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01261.hp1 HG03927.hp1 others(6): Show |
a0001a0004a0008 | a0001c0001a0004c0006a0008c0014 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0197a0001c0001t0001g0201a0001c0001t0001g0261others(6): Show | 9 | 378 | 0.0238 | 8 | c.-23 others(19): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 2234 | chr9 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64100781 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0013a0001c0003t0004a0001c0003t0019 | a0001c0002t0013g0204a0001c0002t0013g0206a0001c0003t0004g0002others(3): Show | 7 | 234 | 0.0299 | 8 | c.55- others(23): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64106715 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0072a0001c0001t0002g0033others(28): Show | 31 | 234 | 0.1325 | 8 | c.55- others(23): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar |