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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(977): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 244 | 0.0041 | 984 | c.228 others(1003): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(977): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0005 a0001c0002t0001g0108 a0001c0002t0001g0285 others(1): Show |
5 | 245 | 0.0204 | 984 | c.728 others(1001): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGAGGCT others(977): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0171 | 1 | 74 | 0.0135 | 984 | c.218 others(1001): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(977): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0082 | 1 | 100 | 0.0100 | 984 | c.-10 others(1001): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(977): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0236 | 1 | 376 | 0.0027 | 984 | c.-42 others(995): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCGT others(978): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0320 a0001c0001t0010g0322 |
2 | 301 | 0.0066 | 985 | c.246 others(1002): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(978): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0173 | 1 | 204 | 0.0049 | 985 | c.259 others(1006): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(978): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 159 | 0.0063 | 985 | c.505 others(1004): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584659 | C | CAAAAAAA others(978): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 200 | 0.0050 | 985 | c.313 others(1000): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(978): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022 | a0001c0001t0012g0368 a0001c0001t0022g0367 |
2 | 329 | 0.0061 | 985 | c.313 others(1000): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687357 | C | CGAGCACT others(978): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 121 | 0.0083 | 985 | c.-17 others(996): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1512 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(978): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0001 | 1 | 72 | 0.0139 | 985 | c.273 others(1002): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(978): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 112 | 0.0089 | 985 | c.217 others(1004): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(978): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0040 | 1 | 112 | 0.0089 | 985 | c.217 others(1004): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(978): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0149 | 1 | 76 | 0.0132 | 985 | c.955 others(1002): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331550 | G | GGAAGGGA others(978): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 316 | 0.0032 | 985 | c.327 others(1002): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(978): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0021 | a0021c0037 | a0021c0037t0004 | a0021c0037t0004g0280 | 1 | 103 | 0.0097 | 985 | c.300 others(1002): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH10_chr5_24482100_24649978 | 24574743 | T | TTGCTAAG others(978): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 202 | 0.0050 | 985 | c.231 others(1004): Show |
CDH10 | ENSG00000040731.10 | transcript | ENST00000264463.8 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CDH10_chr5_24482100_24649978 | 24574743 | T | TTGCTAAG others(978): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(81): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0111 others(81): Show |
84 | 285 | 0.2947 | 985 | c.231 others(1004): Show |
CDH10 | ENSG00000040731.10 | transcript | ENST00000264463.8 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CDH10_chr5_24482100_24649978 | 24574743 | T | TTTTTAAG others(978): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 202 | 0.0050 | 985 | c.231 others(1004): Show |
CDH10 | ENSG00000040731.10 | transcript | ENST00000264463.8 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(978): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 302 | 0.0033 | 985 | c.891 others(1002): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(978): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 6 | 0.1667 | 985 | c.380 others(1002): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(978): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 a0003c0003t0001g0035 |
2 | 7 | 0.2857 | 985 | c.380 others(1002): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCTC others(978): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 6 | 0.1667 | 985 | c.380 others(1002): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(978): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 250 | 0.0040 | 985 | c.162 others(1004): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(978): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0070 a0001c0001t0013g0098 |
2 | 251 | 0.0080 | 985 | c.162 others(1004): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(978): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 a0001c0001t0003g0100 |
2 | 251 | 0.0080 | 985 | c.162 others(1004): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 88 | 0.0114 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 88 | 0.0114 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 88 | 0.0114 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(978): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 107 | 0.0093 | 985 | c.147 others(1002): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(978): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 97 | 0.0103 | 985 | c.344 others(1002): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0183 |
2 | 133 | 0.0150 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 133 | 0.0150 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 132 | 0.0076 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(978): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0022 | 1 | 13 | 0.0769 | 985 | c.-79 others(994): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(978): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 128 | 0.0078 | 985 | c.-43 others(996): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(978): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 128 | 0.0078 | 985 | c.-43 others(996): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(978): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0160 | 1 | 124 | 0.0081 | 985 | c.*65 others(996): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(978): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0233 |
2 | 6 | 0.3333 | 985 | c.-41 others(1000): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(978): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 5 | 0.2000 | 985 | c.-41 others(1000): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(978): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 263 | 0.0038 | 985 | c.-5+ others(1000): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(978): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 24 | 0.0417 | 985 | c.371 others(1002): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(978): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 24 | 0.0417 | 985 | c.371 others(1002): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(978): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 3 | 0.3333 | 985 | c.159 others(1002): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(978): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0001 | a0003c0001t0079 | a0003c0001t0079g0267 | 1 | 192 | 0.0052 | 985 | c.89- others(998): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(978): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 25 | 0.0400 | 985 | c.914 others(1004): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(978): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0048 |
2 | 29 | 0.0690 | 985 | c.-50 others(996): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(978): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 28 | 0.0357 | 985 | c.-50 others(996): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SPATA3_chr2_230991121_231013040 | 231005529 | C | CCACCATC others(978): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0154 | 1 | 434 | 0.0023 | 985 | c.*11 others(1004): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |