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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(1119): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0001 | 1 | 174 | 0.0058 | 1126 | c.41- others(1143): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1119): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0037 | 1 | 174 | 0.0058 | 1126 | c.148 others(1147): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1119): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 174 | 0.0058 | 1126 | c.148 others(1147): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1119): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02300.hp1 HG03017.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0002a0001c0001t0027a0001c0001t0036others(3): Show | a0001c0001t0002g0084 a0001c0001t0002g0118 a0001c0001t0027g0069 others(4): Show |
7 | 174 | 0.0402 | 1126 | c.148 others(1147): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1119): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 174 | 0.0058 | 1126 | c.148 others(1147): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1119): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 |
3 | 228 | 0.0132 | 1126 | c.127 others(1143): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1119): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 228 | 0.0044 | 1126 | c.127 others(1143): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1120): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0033 | a0001c0033t0017 | a0001c0033t0017g0017 | 1 | 318 | 0.0031 | 1127 | c.225 others(1144): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1120): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 150 | 0.0067 | 1127 | c.276 others(1146): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1120): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 |
2 | 150 | 0.0133 | 1127 | c.276 others(1146): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1120): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01515.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0056 others(6): Show |
9 | 150 | 0.0600 | 1127 | c.276 others(1146): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1120): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 150 | 0.0067 | 1127 | c.276 others(1146): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1120): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 |
a0006 | a0006c0011 | a0006c0011t0035 | a0006c0011t0035g0037 | 2 | 376 | 0.0053 | 1127 | c.63+ others(1140): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1120): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02683.hp1 HG02735.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0024a0002c0003t0025a0002c0003t0026others(1): Show | a0002c0003t0024g0062 a0002c0003t0024g0064 a0002c0003t0025g0065 others(3): Show |
6 | 376 | 0.0160 | 1127 | c.63+ others(1140): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1120): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG03041.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0008 | a0002c0003t0006g0060 a0002c0003t0006g0061 a0002c0003t0008g0057 others(2): Show |
5 | 376 | 0.0133 | 1127 | c.63+ others(1140): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1120): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0169 a0004c0006t0001g0170 |
2 | 204 | 0.0098 | 1127 | c.223 others(1146): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1120): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 236 | 0.0042 | 1127 | c.342 others(1148): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATTATATA others(1120): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 236 | 0.0042 | 1127 | c.342 others(1148): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1120): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 364 | 0.0028 | 1127 | c.445 others(1142): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1120): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 364 | 0.0028 | 1127 | c.445 others(1142): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(1120): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0092 | a0002c0092t0001 | a0002c0092t0001g0237 | 1 | 344 | 0.0029 | 1127 | c.85- others(1144): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129920067 | G | GGTCTAGG others(1120): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0199 | 1 | 338 | 0.0030 | 1127 | c.554 others(1146): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1120): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 350 | 0.0029 | 1127 | c.94- others(1140): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1120): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 204 | 0.0049 | 1127 | c.978 others(1144): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1120): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0069 | 1 | 108 | 0.0093 | 1127 | c.648 others(1146): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1120): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0103 | 1 | 178 | 0.0056 | 1127 | c.773 others(1142): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1120): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0004a0005 | a0004c0002a0005c0012 | a0004c0002t0003a0005c0012t0009 | a0004c0002t0003g0136 a0005c0012t0009g0262 |
2 | 322 | 0.0062 | 1127 | c.*48 others(1138): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1120): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02735.hp1 HG03017.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0013a0005c0006others(1): Show | a0001c0001t0002a0002c0013t0002a0002c0013t0004others(2): Show | a0001c0001t0002g0234 a0002c0013t0002g0205 a0002c0013t0004g0098 others(2): Show |
5 | 322 | 0.0155 | 1127 | c.*48 others(1138): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1120): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03041.hp1 others(2): Show |
a0004a0005a0008 | a0004c0002a0005c0012a0008c0010 | a0004c0002t0003a0005c0012t0003a0008c0010t0001 | a0004c0002t0003g0154 a0004c0002t0003g0155 a0004c0002t0003g0160 others(2): Show |
5 | 322 | 0.0155 | 1127 | c.*48 others(1138): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1120): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0001 | 1 | 432 | 0.0023 | 1127 | c.-37 others(1138): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACGCT others(1120): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0007t0048 | a0001c0001t0010g0067 a0001c0007t0048g0222 |
2 | 338 | 0.0059 | 1127 | c.143 others(1144): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089178 | G | GAGCAAGT others(1120): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 304 | 0.0033 | 1127 | c.347 others(1142): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089178 | G | GAGCAAGT others(1120): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0198 |
2 | 304 | 0.0066 | 1127 | c.347 others(1142): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089178 | G | GAGCAAGT others(1120): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18951.hp2 NA19084.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0189 others(1): Show |
4 | 304 | 0.0132 | 1127 | c.347 others(1142): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089178 | G | GAGCAAGT others(1120): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(124): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(123): Show |
127 | 304 | 0.4178 | 1127 | c.347 others(1142): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 218246 | C | CTGGGGCA others(1120): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0078 | 1 | 133 | 0.0075 | 1127 | c.727 others(1144): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1120): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 324 | 0.0031 | 1127 | c.115 others(1144): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1121): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 376 | 0.0027 | 1128 | c.-55 others(1139): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1121): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 150 | 0.0067 | 1128 | c.276 others(1147): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1121): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037 a0001c0002t0001g0123 |
2 | 150 | 0.0133 | 1128 | c.276 others(1147): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758645 | A | ACTCATTC others(1121): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0050 | a0050c0032 | a0050c0032t0001 | a0050c0032t0001g0133 | 1 | 300 | 0.0033 | 1128 | c.654 others(1147): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1121): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0031 | a0006c0031t0002 | a0006c0031t0002g0364 | 1 | 372 | 0.0027 | 1128 | c.180 others(1147): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1121): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 208 | 0.0048 | 1128 | c.192 others(1147): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1121): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0112 | a0001c0112t0001 | a0001c0112t0001g0098 | 1 | 252 | 0.0040 | 1128 | c.118 others(1147): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1121): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0268 | 1 | 292 | 0.0034 | 1128 | c.228 others(1145): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1121): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0057 | 1 | 369 | 0.0027 | 1128 | c.-50 others(1139): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(1121): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 346 | 0.0029 | 1128 | c.-76 others(1145): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399332 | C | CACCATCA others(1121): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 314 | 0.0032 | 1128 | c.-25 others(1145): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997362 | G | GCGGGGGA others(1121): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0007 | a0005c0007t0020 | a0005c0007t0020g0025 | 1 | 375 | 0.0027 | 1128 | c.-21 others(1139): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 308 | chr6 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364551 | A | ACCCACAC others(1121): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 290 | 0.0035 | 1128 | c.129 others(1145): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |