| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CRACD_chr4_56044098_56335609 | 56183235 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02572.hp1 HG02886.hp1 others(3): Show |
a0002a0003a0008others(2): Show | a0002c0006a0003c0002a0003c0007others(3): Show | a0002c0006t0001a0003c0002t0002a0003c0007t0005others(3): Show | a0002c0006t0001g0018a0003c0002t0002g0079a0003c0007t0005g0035others(3): Show | 6 | 250 | 0.0240 | 30 | c.-18 others(49): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56273382 | T | TCCTTTCT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0111 | 1 | 250 | 0.0040 | 30 | c.-17 others(45): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56286525 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0047 | 1 | 250 | 0.0040 | 30 | c.-16 others(49): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACR2A_chr12_3610328_3758109 | 3639457 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02280.hp1 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0202a0008c0007t0001g0050 | 2 | 320 | 0.0063 | 30 | c.127 others(49): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3745780 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02683.hp2 HG02895.hp1 others(11): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0028a0001c0001t0001g0094a0001c0001t0001g0179others(11): Show | 14 | 320 | 0.0438 | 30 | c.-38 others(49): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| CRAMP1_chr16_1607360_1682908 | 1614311 | C | CCCGGGGC others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 332 | 0.0030 | 30 | c.-1- others(43): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197319259 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03486.hp2 NA18949.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0099others(2): Show | 5 | 186 | 0.0269 | 30 | c.71- others(45): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CREB3L2_chr7_137869979_138007086 | 137922384 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 others(1): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0004a0003c0003t0061a0004c0005t0004 | a0003c0003t0004g0164a0003c0003t0004g0165a0003c0003t0061g0125others(1): Show | 4 | 288 | 0.0139 | 30 | c.319 others(47): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| CREB5_chr7_28407518_28830894 | 28486670 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0032 | a0001c0001t0001g0060a0001c0001t0002g0027a0001c0001t0002g0028others(2): Show | 5 | 198 | 0.0253 | 30 | c.4-1 others(43): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28555109 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 198 | 0.0051 | 30 | c.292 others(49): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28560913 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 198 | 0.0051 | 30 | c.292 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28560963 | T | TGCGTGCG others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 198 | 0.0051 | 30 | c.292 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28712524 | T | TTTATTAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01167.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0081a0001c0001t0002g0018a0001c0001t0002g0023others(21): Show | 24 | 198 | 0.1212 | 30 | c.465 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28712524 | T | TTTTTTAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01167.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0056a0001c0001t0003g0069a0001c0001t0003g0135others(2): Show | 5 | 198 | 0.0253 | 30 | c.465 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28775543 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0109a0001c0001t0007g0114 | 2 | 198 | 0.0101 | 30 | c.703 others(49): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CRISP2_chr6_49687359_49718543 | 49701610 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0043a0001c0001t0001g0169a0001c0001t0001g0170others(4): Show | 8 | 410 | 0.0195 | 30 | c.67- others(43): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
| CRISP2_chr6_49687359_49718543 | 49701690 | T | TATGTATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044a0001c0001t0001g0177a0001c0001t0002g0176 | 4 | 410 | 0.0098 | 30 | c.67- others(43): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1189196 | G | GTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0012 | a0004c0012t0004 | a0004c0012t0004g0132 | 1 | 167 | 0.0060 | 30 | c.*17 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1293 | chrX | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1189213 | G | GTGTGTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 |
a0001a0003 | a0001c0002a0003c0025 | a0001c0002t0005a0003c0025t0005 | a0001c0002t0005g0106a0003c0025t0005g0084 | 2 | 167 | 0.0120 | 30 | c.*16 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1276 | chrX | TogoVar | ||||||
| CRMP1_chr4_5815764_5898086 | 5837678 | T | TAAATAAA others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0061 | 1 | 314 | 0.0032 | 30 | c.131 others(47): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | ||||||
| CRMP1_chr4_5815764_5898086 | 5891175 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0307 | 1 | 314 | 0.0032 | 30 | c.381 others(47): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0024a0001c0001t0017g0010 | 2 | 290 | 0.0069 | 30 | c.535 others(49): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 97900907 | G | GGTAGTGA others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0121 | 2 | 204 | 0.0098 | 30 | c.113 others(47): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
| CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0075a0001c0001t0001g0076others(7): Show | 11 | 274 | 0.0402 | 30 | c.126 others(47): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0224 | 1 | 274 | 0.0037 | 30 | c.126 others(47): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90630756 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 276 | 0.0036 | 30 | c.126 others(49): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0017a0002c0002t0009g0188 | 2 | 344 | 0.0058 | 30 | c.-19 others(41): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | ||||||
| CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 NA18964.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0066a0001c0001t0073 | a0001c0001t0002g0269a0001c0001t0002g0270a0001c0001t0066g0022others(1): Show | 4 | 344 | 0.0116 | 30 | c.-19 others(41): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | ||||||
| CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 344 | 0.0029 | 30 | c.-19 others(41): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | ||||||
| CRY1_chr12_106986364_107098549 | 107009563 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0184 | 1 | 320 | 0.0031 | 30 | c.268 others(47): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
| CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCCCTCC others(23): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 402 | 0.0025 | 30 | c.301 others(45): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CRYBA4_chr22_26616963_26635669 | 26627360 | C | CCTCCCTC others(23): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 402 | 0.0025 | 30 | c.301 others(45): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
| CRYBG1_chr6_106355717_106577017 | 106377621 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02886.hp1 HG02976.hp2 |
a0006a0013 | a0006c0005a0013c0016 | a0006c0005t0004a0013c0016t0001 | a0006c0005t0004g0147a0013c0016t0001g0136a0013c0016t0001g0174 | 3 | 272 | 0.0110 | 30 | c.173 others(49): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0157 | 1 | 316 | 0.0032 | 30 | c.*32 others(41): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | ||||||
| CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0103a0001c0002t0001g0002a0001c0003t0001g0030 | 6 | 452 | 0.0133 | 30 | c.*17 others(41): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20462057 | G | GGCCTGGT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(232): Show | 236 | 250 | 0.9440 | 30 | c.277 others(49): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20485685 | T | TAGAAAAG others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03471.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0099others(5): Show | 8 | 250 | 0.0320 | 30 | c.276 others(47): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01981.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(14): Show | 17 | 360 | 0.0472 | 30 | c.332 others(47): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | ||||||
| CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03195.hp2 HG03471.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013a0002c0002t0002g0038a0002c0002t0002g0057others(1): Show | 8 | 318 | 0.0252 | 30 | c.17- others(45): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | ||||||
| CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 211 | 0.0047 | 30 | c.-51 others(39): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | ||||||
| CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0370 | 1 | 386 | 0.0026 | 30 | c.-12 others(47): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03942.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044a0001c0001t0002g0064a0001c0001t0002g0086 | 3 | 386 | 0.0078 | 30 | c.229 others(45): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CSF2RA_chrX_1263814_1314935 | 1280976 | G | GCTTCTCC others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0156 | 1 | 159 | 0.0063 | 30 | c.-26 others(47): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 238 | 0.0042 | 30 | c.-29 others(51): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02698.hp2 HG03516.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0004 | a0001c0002t0002g0132a0002c0003t0004g0006a0002c0003t0004g0014 | 3 | 238 | 0.0126 | 30 | c.-29 others(51): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| CSH1_chr17_63889918_63901574 | 63898112 | T | TTCTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | 30 | c.-16 others(41): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1539 | chr17 | TogoVar | ||||||
| CSH1_chr17_63889918_63901574 | 63898148 | C | CTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 30 | c.-16 others(41): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1575 | chr17 | TogoVar | ||||||
| CSH1_chr17_63889918_63901574 | 63898152 | C | CTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01175.hp1 HG01258.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001a0004c0004t0001g0004 | 7 | 428 | 0.0164 | 30 | c.-16 others(41): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1579 | chr17 | TogoVar | ||||||
| CSH1_chr17_63889918_63901574 | 63898156 | C | CTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | 30 | c.-16 others(41): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1583 | chr17 | TogoVar | ||||||
| CSH1_chr17_63889918_63901574 | 63898160 | C | CTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 NA18944.hp2 NA21309.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0004g0017a0004c0004t0001g0004 | 3 | 428 | 0.0070 | 30 | c.-16 others(41): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1587 | chr17 | TogoVar |