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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20072091 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0154a0001c0001t0001g0162a0001c0001t0001g0163others(55): Show | 58 | 236 | 0.2458 | -21 | c.294 others(38): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20294937 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02809.hp2 others(3): Show |
a0002a0008 | a0002c0009a0002c0022a0008c0020 | a0002c0009t0001a0002c0009t0002a0002c0009t0003others(2): Show | a0002c0009t0001g0105a0002c0009t0002g0104a0002c0009t0002g0106others(3): Show | 6 | 236 | 0.0254 | -21 | c.321 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357322 | GGTGGTCA others(14): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022a0002c0002t0001g0023 | 2 | 236 | 0.0085 | -21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357353 | CTGAGGGG others(14): Show |
C | intron_variant | MODIFIER | HG01109.hp1 NA19030.hp1 |
a0006a0008 | a0006c0011a0008c0017 | a0006c0011t0002a0008c0017t0002 | a0006c0011t0002g0117a0008c0017t0002g0121 | 2 | 236 | 0.0085 | -21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357789 | CAGTGTGC others(14): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022a0002c0002t0001g0023 | 2 | 236 | 0.0085 | -21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03453.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0014a0005c0008t0002g0245 | 3 | 338 | 0.0089 | -21 | c.357 others(38): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | ||||||
CFAP73_chr12_113144724_113164276 | 113148794 | AGGGTACT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | -21 | c.-10 others(32): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 929 | chr12 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 NA19030.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004 | a0001c0001t0004g0012a0001c0001t0004g0160a0002c0004t0004g0026 | 5 | 386 | 0.0130 | -21 | c.146 others(38): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843542 | CCTCCTCC others(14): Show |
C | intron_variant | MODIFIER | HG00733.hp1 NA19083.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0357a0002c0003t0001g0248 | 2 | 380 | 0.0053 | -21 | c.153 others(36): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843545 | CCTCCTCC others(14): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02056.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0167a0001c0001t0001g0196a0001c0001t0001g0219others(2): Show | 5 | 380 | 0.0132 | -21 | c.153 others(36): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843548 | CCTCCTCC others(14): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 380 | 0.0026 | -21 | c.153 others(36): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(14): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 380 | 0.0026 | -21 | c.153 others(36): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(34): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0002g0147others(34): Show | 37 | 314 | 0.1178 | -21 | c.650 others(38): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 867607 | GGCAGAGA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0035 | 2 | 287 | 0.0070 | -21 | c.*43 others(32): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3967 | chr19 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114026 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0089 | 1 | 234 | 0.0043 | -21 | c.-25 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2137 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTAT others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0111 | 1 | 234 | 0.0043 | -21 | c.*12 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1295 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CGB7_chr19_49049274_49062749 | 49062310 | AAACCTCA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -21 | c.-62 others(32): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 4562 | chr19 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405822 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG01496.hp2 others(19): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0039a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0185a0001c0001t0002g0217a0001c0001t0002g0225others(19): Show | 22 | 294 | 0.0748 | -21 | c.-16 others(40): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57554364 | CACCCTGT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 294 | 0.0034 | -21 | c.*68 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3648 | chr15 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49647738 | GCTTTCCT others(14): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0307 | 1 | 418 | 0.0024 | -21 | c.128 others(38): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126857943 | CATGTGCC others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02602.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0165a0001c0001t0001g0166 | 3 | 216 | 0.0139 | -21 | c.495 others(38): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862353 | TATCACCA others(14): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0112a0001c0001t0001g0113others(1): Show | 4 | 216 | 0.0185 | -21 | c.495 others(38): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862429 | TCCTCCTC others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG02004.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0141a0001c0001t0001g0161a0002c0002t0001g0002others(22): Show | 25 | 216 | 0.1157 | -21 | c.495 others(38): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126863443 | TCCTCCTC others(14): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 216 | 0.0046 | -21 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126863807 | TCATCACC others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02132.hp1 NA18954.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(2): Show | 5 | 216 | 0.0232 | -21 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 322 | 0.0031 | -21 | c.-27 others(32): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607667 | CCCCAACA others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0069 | 1 | 374 | 0.0027 | -21 | c.-46 others(30): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 289 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607669 | CCAACACA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01257.hp2 HG01258.hp1 others(20): Show |
a0001 | a0001c0002a0001c0003a0001c0017 | a0001c0002t0001a0001c0002t0004a0001c0003t0003others(1): Show | a0001c0002t0001g0034a0001c0002t0004g0051a0001c0003t0003g0002others(12): Show | 23 | 374 | 0.0615 | -21 | c.-46 others(30): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 291 | chr12 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6161132 | GAGAAGGA others(14): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0031 | a0001c0031t0034 | a0001c0031t0034g0004 | 1 | 320 | 0.0031 | -21 | c.208 others(38): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 2/41 | chr1 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53821293 | TCCTGTGG others(14): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02132.hp1 HG02145.hp1 others(1): Show |
a0002 | a0002c0011a0002c0012 | a0002c0011t0040a0002c0012t0109a0002c0012t0110 | a0002c0011t0040g0231a0002c0011t0040g0232a0002c0012t0109g0243others(1): Show | 4 | 392 | 0.0102 | -21 | c.985 others(36): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 5/8 | chr3 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28706505 | GTGATCAT others(14): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 384 | 0.0026 | -21 | c.847 others(38): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926069 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG04184.hp2 NA18957.hp1 |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0002a0006c0006t0002 | a0001c0001t0001g0001a0003c0003t0002g0107a0006c0006t0002g0011 | 3 | 440 | 0.0068 | -21 | c.*10 others(32): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 717 | chr20 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 872059 | GGAGGCTG others(14): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0312 | 1 | 386 | 0.0026 | -21 | c.960 others(38): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03453.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0143a0001c0001t0004g0211a0001c0001t0016g0212others(1): Show | 4 | 245 | 0.0163 | -21 | c.116 others(38): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174955198 | ATAATTGA others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(4): Show | 7 | 276 | 0.0254 | -21 | c.20- others(36): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01517.hp2 HG01943.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0029a0001c0001t0005g0006a0001c0001t0005g0023others(26): Show | 29 | 232 | 0.1250 | -21 | c.654 others(38): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHP2_chr16_23750026_23763935 | 23750917 | CTTTCTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -21 | c.-41 others(32): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4108 | chr16 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151242043 | AGGGTGGT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 382 | 0.0026 | -21 | c.*33 others(32): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 3222 | chr7 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30365801 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 |
a0003 | a0003c0003a0003c0019 | a0003c0003t0002a0003c0019t0002 | a0003c0003t0002g0014a0003c0019t0002g0011 | 2 | 133 | 0.0150 | -21 | c.720 others(38): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136938915 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0053 | a0001c0001t0015g0262a0001c0001t0053g0263 | 2 | 320 | 0.0063 | -21 | c.-12 others(42): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRNA3_chr15_78590309_78625996 | 78615439 | ATGGCTGA others(14): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 410 | 0.0024 | -21 | c.377 others(38): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434579 | TAAAAAAA others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0144 | a0002c0002t0144g0283 | 1 | 344 | 0.0029 | -21 | c.*71 others(30): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 712 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST6_chr16_75467052_75500441 | 75491173 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0034a0001c0001t0003g0206others(4): Show | 8 | 371 | 0.0216 | -21 | c.-92 others(38): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75491175 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 371 | 0.0027 | -21 | c.-92 others(38): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618400 | TTCTTCTT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0040 | 2 | 254 | 0.0079 | -21 | c.-40 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3552 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618403 | TTCTTCTT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147a0001c0001t0002g0051 | 2 | 254 | 0.0079 | -21 | c.-40 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3549 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618424 | GTCTTCTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 254 | 0.0039 | -21 | c.-40 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3528 | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053259 | AAGGAGAA others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0085 | a0001c0001t0003g0174a0001c0005t0085g0017 | 2 | 262 | 0.0076 | -21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020447 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 276 | 0.0036 | -21 | c.108 others(44): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CIB4_chr2_26576205_26646366 | 26589039 | TTCTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG02155.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0004 | a0001c0001t0002g0234a0002c0002t0002g0278a0002c0002t0002g0285others(2): Show | 5 | 344 | 0.0145 | -21 | c.329 others(38): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar |