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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRISP2_chr6_49687359_49718543 | 49701618 | ATATACAT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00621.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069a0001c0001t0002g0001a0001c0001t0002g0004others(23): Show | 55 | 410 | 0.1342 | -15 | c.67- others(28): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01261.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 30 | 410 | 0.0732 | -15 | c.67- others(30): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRISPLD2_chr16_84814985_84914508 | 84871870 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02109.hp1 |
a0004a0007 | a0004c0029a0007c0027a0007c0031 | a0004c0029t0055a0007c0027t0087a0007c0031t0002 | a0004c0029t0055g0380a0007c0027t0087g0349a0007c0031t0002g0182 | 3 | 380 | 0.0079 | -15 | c.915 others(30): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRK_chr17_1415693_1461232 | 1427030 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0010others(1): Show | a0001c0001t0002g0161a0001c0002t0001g0033a0001c0002t0001g0057others(2): Show | 5 | 404 | 0.0124 | -15 | c.778 others(32): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1440144 | AAAAAATT others(8): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 404 | 0.0025 | -15 | c.242 others(32): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
CRLF1_chr19_18588237_18611799 | 18609091 | CCTCCTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0014others(20): Show | 54 | 408 | 0.1324 | -15 | c.-24 others(26): Show |
CRLF1 | ENSG00000006016.12 | transcript | ENST00000392386.8 | protein_coding | 2293 | chr19 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1209294 | TTGTAGTG others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0039a0005c0026others(2): Show | a0001c0001t0001a0002c0039t0001a0005c0026t0002others(2): Show | a0001c0001t0001g0042a0002c0039t0001g0144a0005c0026t0002g0102others(2): Show | 5 | 167 | 0.0299 | -15 | c.80- others(28): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1210111 | AAAAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0110a0001c0003t0001g0124 | 2 | 167 | 0.0120 | -15 | c.80- others(30): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
CRLS1_chr20_6001123_6045053 | 6011572 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0124 | 1 | 366 | 0.0027 | -15 | c.444 others(32): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CRMP1_chr4_5815764_5898086 | 5824655 | AACATCCT others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 |
a0001a0003 | a0001c0002a0003c0018 | a0001c0002t0001a0003c0018t0004 | a0001c0002t0001g0060a0003c0018t0004g0209 | 2 | 314 | 0.0064 | -15 | c.196 others(32): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240917544 | CAGGAGGA others(8): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 350 | 0.0029 | -15 | c.79- others(30): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985115 | ACCCAGGC others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 350 | 0.0029 | -15 | c.455 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16099400 | AAGGGGAG others(8): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0008 | a0006c0008t0063 | a0006c0008t0063g0036 | 1 | 290 | 0.0035 | -15 | c.125 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286035 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0003 | 1 | 290 | 0.0035 | -15 | c.836 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286037 | AAATATAA others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0203 | 1 | 290 | 0.0035 | -15 | c.836 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286039 | ATATAAAT others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02040.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0035a0001c0001t0004g0074a0001c0001t0009g0165 | 3 | 290 | 0.0103 | -15 | c.836 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97997230 | TATAATAA others(8): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0020a0001c0003t0001g0123 | 2 | 204 | 0.0098 | -15 | c.224 others(34): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98002761 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0189a0001c0003t0002g0148 | 2 | 204 | 0.0098 | -15 | c.224 others(32): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98018199 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp2 HG03831.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0007 | a0001c0001t0001a0002c0005t0001a0002c0007t0001 | a0001c0001t0001g0153a0001c0001t0001g0193a0002c0005t0001g0152others(2): Show | 5 | 204 | 0.0245 | -15 | c.25- others(30): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98029515 | GGCGGCGG others(8): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0004t0001g0003others(2): Show | 5 | 204 | 0.0245 | -15 | c.24+ others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861408 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02148.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060a0001c0001t0002g0162a0001c0001t0002g0188 | 3 | 428 | 0.0070 | -15 | c.653 others(32): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861410 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0088a0001c0001t0001g0112others(4): Show | 7 | 428 | 0.0164 | -15 | c.653 others(32): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG01496.hp2 others(4): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0011 | a0001c0001t0002a0001c0005t0001a0009c0011t0001 | a0001c0001t0002g0165a0001c0005t0001g0015a0001c0005t0001g0219others(2): Show | 7 | 428 | 0.0164 | -15 | c.653 others(32): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863306 | GAAAAGAA others(8): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0284 | 1 | 428 | 0.0023 | -15 | c.733 others(30): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863322 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02896.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0341a0002c0002t0010g0342a0002c0002t0010g0343others(1): Show | 4 | 428 | 0.0094 | -15 | c.733 others(30): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAP_chr3_33109014_33152773 | 33114643 | CTCCAGTT others(8): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 408 | 0.0025 | -15 | c.471 others(29): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90527119 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197a0001c0001t0001g0208a0001c0001t0001g0232others(6): Show | 9 | 276 | 0.0326 | -15 | c.-29 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2803 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90630756 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0003 | 1 | 276 | 0.0036 | -15 | c.126 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90633225 | GCCTGGTT others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02717.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0010a0003c0003t0001 | a0001c0001t0001g0121a0001c0001t0010g0035a0003c0003t0001g0217others(1): Show | 4 | 276 | 0.0145 | -15 | c.126 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | chr15 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107059272 | AACAGGGT others(8): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 320 | 0.0031 | -15 | c.158 others(34): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107098202 | AAAAGGAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00639.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(72): Show | 78 | 320 | 0.2438 | -15 | c.-52 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | ||||||
CRYAB_chr11_111903564_111916770 | 111913201 | GCCTCCTC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 398 | 0.0050 | -15 | c.-14 others(26): Show |
CRYAB | ENSG00000109846.9 | transcript | ENST00000650687.2 | protein_coding | 1432 | chr11 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218735 | GGGAGAGA others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | -15 | c.-95 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 903 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218756 | AGAGAGAG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 464 | 0.0022 | -15 | c.-93 others(24): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 882 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25231321 | CCAGTACA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0025others(94): Show | 211 | 464 | 0.4547 | -15 | c.450 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106542608 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(90): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0009a0001c0022others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0032others(90): Show | 93 | 272 | 0.3419 | -15 | c.488 others(32): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01952.hp1 others(1): Show |
a0010 | a0010c0013 | a0010c0013t0009 | a0010c0013t0009g0049a0010c0013t0009g0063a0010c0013t0009g0066others(1): Show | 4 | 272 | 0.0147 | -15 | c.547 others(32): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97830470 | TCTTGGTT others(8): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01975.hp2 |
a0032a0033 | a0032c0038a0033c0037 | a0032c0038t0003a0033c0037t0001 | a0032c0038t0003g0138a0033c0037t0001g0137 | 2 | 316 | 0.0063 | -15 | c.149 others(32): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYGA_chr2_208155740_208168589 | 208166226 | GTGGTAGA others(8): Show |
G | upstream_gene_variant | MODIFIER | NA19059.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0051 | 1 | 394 | 0.0025 | -15 | c.-26 others(26): Show |
CRYGA | ENSG00000168582.5 | transcript | ENST00000304502.5 | protein_coding | 2638 | chr2 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20456623 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0035others(66): Show | 69 | 250 | 0.2760 | -15 | c.277 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508861 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217a0001c0001t0002g0235 | 2 | 250 | 0.0080 | -15 | c.149 others(32): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20521135 | AAAGAAGG others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0101a0001c0001t0001g0102others(109): Show | 112 | 250 | 0.4480 | -15 | c.41+ others(30): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33645445 | AGCTTGGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0002g0138 | 2 | 360 | 0.0056 | -15 | c.-37 others(26): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 3705 | chr21 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49047564 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 386 | 0.0026 | -15 | c.-12 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281189 | TCTCCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01106.hp1 others(21): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0053a0001c0001t0001g0056others(21): Show | 24 | 159 | 0.1509 | -15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281307 | TTCCTTCT others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 159 | 0.0063 | -15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281447 | GCTCCTTC others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0005g0155 | 3 | 159 | 0.0189 | -15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19511694 | ATGTGAGT others(8): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 238 | 0.0042 | -15 | c.-29 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666788 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0097 | 1 | 238 | 0.0042 | -15 | c.-39 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667015 | GAAAGGAA others(8): Show |
G | intron_variant | MODIFIER | HG00639.hp1 NA20805.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0009 | a0002c0003t0004g0033a0002c0003t0009g0168 | 2 | 238 | 0.0084 | -15 | c.-39 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar |