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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE4_chr3_131528569_132040014 | 131923705 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0030 a0001c0003t0003g0031 |
2 | 92 | 0.0217 | -26 | c.-1- others(43): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587665 | CCGCAGAC others(19): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0013 | 1 | 346 | 0.0029 | -26 | c.927 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587755 | ACCCGCGT others(19): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01167.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0107 others(2): Show |
5 | 337 | 0.0148 | -26 | c.927 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587759 | GCGTGTCA others(19): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00741.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0094 others(5): Show |
8 | 320 | 0.0250 | -26 | c.927 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587775 | AACACGGC others(19): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 117 | 0.0085 | -26 | c.927 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587829 | CACCCACA others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01517.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0002t0002g0045 others(2): Show |
5 | 343 | 0.0146 | -26 | c.927 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588065 | CCCCCCGT others(19): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 | 1 | 330 | 0.0030 | -26 | c.928 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE9_chr3_9698833_9734908 | 9725628 | ATGTATAT others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0053 others(46): Show |
52 | 436 | 0.1193 | -26 | c.124 others(43): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12784282 | AAGAGGAC others(19): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0117 | 1 | 288 | 0.0035 | -26 | c.71- others(41): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 16 | 0.0625 | -26 | c.-34 others(45): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 others(4): Show |
7 | 14 | 0.5000 | -26 | c.849 others(41): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97061358 | AAAAAGTT others(19): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0044 a0002c0003t0001g0087 |
2 | 124 | 0.0161 | -26 | c.105 others(45): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
CPS1_chr2_210551599_210684107 | 210571855 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp1 others(34): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(34): Show |
37 | 75 | 0.4933 | -26 | c.127 others(43): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF1_chr8_144388231_144414335 | 144391514 | CGTAGGCA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 348 | 0.0029 | -26 | c.*17 others(37): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 1716 | chr8 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49697774 | ATGGTGGC others(19): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 348 | 0.0029 | -26 | c.281 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 4/19 | chr19 | TogoVar | |||||||
CPT2_chr1_53191824_53219197 | 53192639 | CTGTGTGT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 12 | 0.0833 | -26 | c.-43 others(37): Show |
CPT2 | ENSG00000157184.7 | transcript | ENST00000371486.4 | protein_coding | 4184 | chr1 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29069770 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0135 |
2 | 21 | 0.0952 | -26 | c.864 others(43): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
CR1_chr1_207491157_207646765 | 207617575 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 | 1 | 358 | 0.0028 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617590 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293 a0002c0002t0001g0296 |
2 | 352 | 0.0057 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617592 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 a0002c0002t0001g0295 |
2 | 343 | 0.0058 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA19065.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0253 a0002c0002t0001g0299 |
2 | 331 | 0.0060 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 |
a0009a0015 | a0009c0014a0015c0052 | a0009c0014t0002a0015c0052t0002 | a0009c0014t0002g0058 a0015c0052t0002g0077 |
2 | 317 | 0.0063 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 |
a0004 | a0004c0015 | a0004c0015t0002 | a0004c0015t0002g0189 a0004c0015t0002g0191 |
2 | 325 | 0.0062 | -26 | c.689 others(43): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0002 a0002c0002t0002g0093 |
2 | 13 | 0.1538 | -26 | c.-16 others(43): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3660863 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 318 | 0.0031 | -26 | c.672 others(43): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197354817 | GCCCCCCC others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 others(4): Show |
7 | 165 | 0.0424 | -26 | c.989 others(43): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02004.hp2 HG02129.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0019 others(2): Show |
11 | 26 | 0.4231 | -26 | c.-32 others(37): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137922412 | ATATGTAT others(19): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA18979.hp1 NA18989.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0019a0002c0002t0005 | a0001c0004t0019g0027 a0001c0004t0019g0132 a0002c0002t0005g0208 others(2): Show |
5 | 272 | 0.0184 | -26 | c.319 others(43): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(19): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0025a0003c0003t0001 | a0001c0001t0025g0088 a0003c0003t0001g0181 |
2 | 157 | 0.0127 | -26 | c.102 others(45): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28642961 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0039 | a0001c0001t0006g0096 a0001c0001t0039g0123 |
2 | 196 | 0.0102 | -26 | c.464 others(45): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3814215 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0157 others(4): Show |
7 | 13 | 0.5385 | -26 | c.799 others(43): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 212 | 0.0047 | -26 | c.798 others(41): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9936498 | TGTATATA others(19): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01257.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0011 | a0001c0001t0001a0002c0003t0001a0007c0011t0001 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0089 others(8): Show |
17 | 400 | 0.0425 | -26 | c.258 others(43): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRISPLD2_chr16_84814985_84914508 | 84913027 | GTGTGTGT others(19): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp2 NA18952.hp1 others(1): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0003c0007others(1): Show | a0001c0002t0007a0003c0004t0008a0003c0007t0003others(1): Show | a0001c0002t0007g0314 a0003c0004t0008g0278 a0003c0007t0003g0282 others(1): Show |
4 | 378 | 0.0106 | -26 | c.*63 others(37): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 3520 | chr16 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1203119 | AAAGGATC others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0144 | 1 | 164 | 0.0061 | -26 | c.350 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 3/7 | chrX | TogoVar | |||||||
CRLS1_chr20_6001123_6045053 | 6008123 | AGAATTTT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0026 others(222): Show |
259 | 364 | 0.7115 | -26 | c.306 others(43): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5816623 | CTCCCTCC others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 HG02886.hp1 HG03942.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0075 a0001c0003t0001g0070 a0001c0003t0001g0100 others(4): Show |
7 | 298 | 0.0235 | -26 | c.*51 others(37): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 4140 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5835044 | TCTCCTTC others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004others(1): Show | a0001c0002t0001a0001c0003t0006a0002c0004t0001others(1): Show | a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0003t0006g0174 others(4): Show |
7 | 312 | 0.0224 | -26 | c.162 others(43): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 11/13 | chr4 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16387064 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA18957.hp2 NA18964.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0032others(2): Show | a0001c0001t0002g0025 a0001c0001t0009g0029 a0001c0001t0032g0027 others(3): Show |
6 | 285 | 0.0211 | -26 | c.535 others(45): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16414350 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00642.hp1 others(61): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(34): Show | a0001c0001t0004g0006 a0002c0002t0001g0225 a0002c0002t0001g0239 others(61): Show |
64 | 117 | 0.5470 | -26 | c.257 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97894708 | TTACATAT others(19): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 181 | 0.0055 | -26 | c.148 others(43): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 31 | 0.0323 | -26 | c.148 others(43): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627390 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 380 | 0.0026 | -26 | c.301 others(41): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627400 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 400 | 0.0025 | -26 | c.301 others(41): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358171 | TTTTATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02615.hp2 others(5): Show |
a0031a0037a0040others(5): Show | a0031c0035a0037c0032a0040c0030others(5): Show | a0031c0035t0001a0037c0032t0002a0040c0030t0003others(5): Show | a0031c0035t0001g0254 a0037c0032t0002g0247 a0040c0030t0003g0245 others(5): Show |
8 | 222 | 0.0360 | -26 | c.-27 others(37): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2545 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106433733 | ATACATAT others(19): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG03139.hp2 others(20): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0004others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0095 others(20): Show |
23 | 261 | 0.0881 | -26 | c.174 others(45): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49068771 | GTTTTCTT others(19): Show |
G | frameshift_variant | HIGH | NA18956.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0049 | 1 | 384 | 0.0026 | -26 | c.625 others(33): Show |
p.Phe others(5): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 7/25 | 748/3550 | 625/2916 | 209/971 | chr20 | TogoVar | |||
CSGALNACT1_chr8_19399161_19762277 | 19666789 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0072 | 1 | 223 | 0.0045 | -26 | c.-39 others(47): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666793 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01515.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0134 a0001c0001t0001g0210 a0001c0001t0002g0059 others(7): Show |
10 | 201 | 0.0498 | -26 | c.-39 others(47): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSH2_chr17_63867016_63878677 | 63877165 | CCATGTCT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -26 | c.-35 others(37): Show |
CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 3489 | chr17 | TogoVar |