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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A3_chr20_62812050_62846159 | 62832770 | A | AGGTTCTG others(32): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(118): Show |
a0001a0009a0010others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(23): Show | a0001c0001t0001g0052a0001c0001t0001g0077a0001c0001t0001g0135others(107): Show | 121 | 412 | 0.2937 | 39 | c.132 others(56): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL9A3_chr20_62812050_62846159 | 62832770 | A | AGGTTCTG others(32): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001a0006a0027 | a0001c0001a0001c0010a0006c0026others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0010t0003others(6): Show | a0001c0001t0001g0231a0001c0001t0006g0259a0001c0010t0003g0248others(7): Show | 11 | 412 | 0.0267 | 39 | c.132 others(56): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL9A3_chr20_62812050_62846159 | 62832771 | G | AGTTCTGC others(32): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG03225.hp1 others(1): Show |
a0001a0021 | a0001c0004a0001c0005a0021c0037 | a0001c0004t0001a0001c0005t0001a0021c0037t0001 | a0001c0004t0001g0071a0001c0004t0001g0124a0001c0005t0001g0110others(1): Show | 4 | 412 | 0.0097 | 39 | c.132 others(56): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 25/31 | chr20 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAAGAAA others(32): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02922.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0131a0002c0003t0001g0132 | 2 | 330 | 0.0061 | 39 | c.735 others(54): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAAGAAA others(32): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02809.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0124a0002c0003t0001g0148a0002c0003t0001g0205 | 3 | 330 | 0.0091 | 39 | c.735 others(54): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(32): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0117 | 1 | 330 | 0.0030 | 39 | c.735 others(54): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COQ5_chr12_120498279_120534158 | 120525965 | G | GCAATAAA others(32): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18970.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 2 | 388 | 0.0052 | 39 | c.202 others(56): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CORO1A_chr16_30178602_30194076 | 30190349 | T | TTATATAT others(32): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 342 | 0.0029 | 39 | c.*13 others(50): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1274 | chr16 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42364250 | C | CAAAAAAA others(32): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 406 | 0.0025 | 39 | c.-30 others(50): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 3034 | chr2 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173964587 | G | GTGGGGTG others(32): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200 | 1 | 372 | 0.0027 | 39 | c.*84 others(50): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 2608 | chr5 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0069 | 2 | 332 | 0.0060 | 39 | c.308 others(56): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18952.hp1 NA18959.hp2 |
a0002a0011 | a0002c0003a0011c0016 | a0002c0003t0003a0011c0016t0003 | a0002c0003t0003g0113a0002c0003t0003g0114a0011c0016t0003g0112 | 3 | 348 | 0.0086 | 39 | c.927 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18982.hp2 NA19011.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0003a0003c0006t0003 | a0001c0002t0003g0177a0003c0006t0003g0274a0003c0006t0003g0275 | 3 | 348 | 0.0086 | 39 | c.927 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587781 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0111 | 1 | 348 | 0.0029 | 39 | c.927 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587845 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0126 | 1 | 348 | 0.0029 | 39 | c.927 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588095 | C | CCCGTGTT others(32): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0137 | 1 | 348 | 0.0029 | 39 | c.928 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588117 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0296 | 1 | 348 | 0.0029 | 39 | c.928 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588228 | G | GCCCCCCG others(32): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0292 | 1 | 348 | 0.0029 | 39 | c.928 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89590750 | C | CGGGGGAG others(32): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01943.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0002a0001c0025 | a0001c0002t0004a0001c0025t0001 | a0001c0002t0004g0132a0001c0002t0004g0133a0001c0002t0004g0151others(1): Show | 4 | 348 | 0.0115 | 39 | c.111 others(56): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 364 | 0.0028 | 39 | c.103 others(56): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 364 | 0.0028 | 39 | c.103 others(56): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPT1A_chr11_68749883_68846916 | 68817063 | G | GGTGTGTG others(32): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03471.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0001g0217a0001c0001t0001g0224a0001c0001t0003g0222others(6): Show | 9 | 236 | 0.0381 | 39 | c.-13 others(56): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605326 | C | CCATCTAT others(32): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03669.hp1 |
a0005 | a0005c0032 | a0005c0032t0007 | a0005c0032t0007g0273a0005c0032t0007g0274 | 2 | 442 | 0.0045 | 39 | c.710 others(54): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPZ_chr4_8587765_8624752 | 8609148 | C | CCATTCAC others(32): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(274): Show |
a0000a0001a0002others(13): Show | a0000c0035a0001c0001a0001c0007others(31): Show | a0000c0035t0001a0001c0001t0001a0001c0001t0002others(36): Show | a0000c0035t0001g0248a0001c0001t0001g0001a0001c0001t0001g0002others(182): Show | 277 | 442 | 0.6267 | 39 | c.122 others(58): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPZ_chr4_8587765_8624752 | 8609178 | A | ACTCACTC others(32): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0250 | 1 | 442 | 0.0023 | 39 | c.122 others(58): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207581379 | T | TACATATG others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02258.hp2 others(21): Show |
a0011a0013a0015others(5): Show | a0011c0010a0013c0012a0015c0053others(8): Show | a0011c0010t0002a0011c0010t0005a0013c0012t0001others(10): Show | a0011c0010t0002g0135a0011c0010t0002g0136a0011c0010t0002g0137others(21): Show | 24 | 360 | 0.0667 | 39 | c.521 others(56): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRACDL_chr2_98788846_98941225 | 98936612 | A | ACCCGGGA others(32): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01070.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0032others(33): Show | 36 | 316 | 0.1139 | 39 | c.-68 others(48): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 388 | chr2 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3745825 | T | TAAAATAA others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02970.hp1 HG03041.hp2 others(1): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0007 | a0001c0001t0001a0004c0004t0002a0008c0007t0001 | a0001c0001t0001g0064a0001c0001t0001g0102a0004c0004t0002g0043others(1): Show | 4 | 320 | 0.0125 | 39 | c.-38 others(58): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CRAMP1_chr16_1607360_1682908 | 1661321 | A | AGGTCCTG others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(64): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0011a0001c0014others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0003g0001a0001c0001t0003g0006a0001c0001t0003g0017others(53): Show | 67 | 332 | 0.2018 | 39 | c.241 others(56): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRAMP1_chr16_1607360_1682908 | 1661459 | C | CGGAGGGG others(32): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0039 | 2 | 332 | 0.0060 | 39 | c.241 others(56): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CREB3L3_chr19_4148631_4178054 | 4163328 | A | AAAGAAAG others(32): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 404 | 0.0025 | 39 | c.577 others(56): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(32): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 404 | 0.0025 | 39 | c.577 others(56): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28712524 | T | TTTATTAT others(32): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 198 | 0.0051 | 39 | c.465 others(56): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0264 | 1 | 286 | 0.0035 | 39 | c.325 others(56): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35187179 | A | ATATATTT others(32): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 294 | 0.0034 | 39 | c.410 others(56): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CREM_chr10_35121846_35217953 | 35187179 | A | ATATATTT others(32): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02572.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0020 | a0001c0002t0004g0115a0001c0002t0004g0290a0001c0002t0020g0291 | 3 | 294 | 0.0102 | 39 | c.410 others(56): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CREM_chr10_35121846_35217953 | 35215163 | G | GGGACAGC others(32): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 294 | 0.0034 | 39 | c.*37 others(50): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 2211 | chr10 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20927192 | A | ATTTTTTT others(32): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 370 | 0.0027 | 39 | c.312 others(56): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03540.hp2 NA18979.hp1 others(5): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0008a0002c0005others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0001g0092a0001c0001t0001g0120others(5): Show | 8 | 167 | 0.0479 | 39 | c.853 others(54): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5837650 | T | TAATAAAA others(32): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02896.hp1 |
a0001a0002 | a0001c0003a0002c0004a0002c0023 | a0001c0003t0003a0002c0004t0003a0002c0023t0003 | a0001c0003t0003g0067a0002c0004t0003g0040a0002c0023t0003g0019 | 3 | 314 | 0.0096 | 39 | c.131 others(56): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0134 | 1 | 290 | 0.0035 | 39 | c.684 others(58): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43172219 | A | ACGCCGAG others(32): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0022 | 1 | 40 | 0.0250 | 39 | c.463 others(46): Show |
p.Ala others(13): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 594/1139 | 502/522 | 168/173 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
CRYBG1_chr6_106355717_106577017 | 106361970 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0004a0005a0012others(1): Show | a0004c0004a0005c0006a0012c0015others(1): Show | a0004c0004t0002a0005c0006t0008a0012c0015t0003others(1): Show | a0004c0004t0002g0163a0005c0006t0008g0243a0012c0015t0003g0241others(2): Show | 5 | 272 | 0.0184 | 39 | c.173 others(54): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CSF1R_chr5_150048295_150091554 | 150084396 | A | AAAGAAAG others(32): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0212 | 1 | 406 | 0.0025 | 39 | c.49+ others(54): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1280853 | T | TCTCCTCC others(32): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0008 | a0008c0016 | a0008c0016t0009 | a0008c0016t0009g0015 | 1 | 159 | 0.0063 | 39 | c.-26 others(56): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSH1_chr17_63889918_63901574 | 63898107 | T | TTTCTTTC others(32): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 39 | c.-15 others(50): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1534 | chr17 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63898203 | T | TTTCTTTC others(32): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 39 | c.-16 others(50): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1630 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2974124 | G | GATGATGG others(32): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03098.hp2 |
a0011a0024 | a0011c0110a0024c0038 | a0011c0110t0074a0024c0038t0075 | a0011c0110t0074g0082a0024c0038t0075g0067 | 2 | 126 | 0.0159 | 39 | c.874 others(56): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3448405 | A | AGGAAGGA others(32): Show |
intron_variant | MODIFIER | HG03540.hp2 NA20129.hp1 |
a0009a0014 | a0009c0113a0014c0010 | a0009c0113t0011a0014c0010t0070 | a0009c0113t0011g0043a0014c0010t0070g0084 | 2 | 126 | 0.0159 | 39 | c.156 others(60): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113302300 | A | ATATTATA others(32): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01109.hp2 |
a0003a0004 | a0003c0002a0004c0004 | a0003c0002t0001a0004c0004t0001a0004c0004t0009 | a0003c0002t0001g0050a0004c0004t0001g0031a0004c0004t0009g0032 | 3 | 80 | 0.0375 | 39 | c.401 others(58): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 2/70 | chr8 | TogoVar |