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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0063 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02293.hp1 |
a0000a0001 | a0000c0042a0001c0002 | a0000c0042t0001a0001c0002t0001 | a0000c0042t0001g0124a0001c0002t0001g0004 | 2 | 203 | 0.0099 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0108 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0034 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3118): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0004a0001c0010a0001c0011 | a0001c0004t0001a0001c0010t0001a0001c0011t0001 | a0001c0004t0001g0001a0001c0004t0001g0036a0001c0004t0001g0038others(3): Show | 6 | 203 | 0.0296 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162218 | G | GGGAGGTC others(3118): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 203 | 0.0049 | 3125 | c.-12 others(3144): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3118): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0195 | 1 | 350 | 0.0029 | 3125 | c.192 others(3140): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3119): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0238 | 1 | 264 | 0.0038 | 3126 | c.400 others(3145): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3119): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 268 | 0.0037 | 3126 | c.139 others(3147): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3119): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 | 1 | 268 | 0.0037 | 3126 | c.139 others(3147): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3119): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 | 1 | 268 | 0.0037 | 3126 | c.139 others(3147): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3119): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 56 | 0.0179 | 3126 | c.209 others(3141): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(3119): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0171 | 1 | 178 | 0.0056 | 3126 | c.773 others(3141): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02273.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0047a0002c0008t0001g0094 | 2 | 203 | 0.0099 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0159a0001c0011t0001g0112 | 2 | 203 | 0.0099 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0115 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0179 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0009 | a0009c0031 | a0009c0031t0001 | a0009c0031t0001g0196 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3119): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162204 | A | AATCCCAG others(3119): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0177 | 1 | 203 | 0.0049 | 3126 | c.-12 others(3145): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3119): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0300 | 1 | 344 | 0.0029 | 3126 | c.327 others(3143): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3119): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0310 | 1 | 344 | 0.0029 | 3126 | c.327 others(3143): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3119): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 344 | 0.0029 | 3126 | c.327 others(3143): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771926 | A | AGGGAGGG others(3119): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0113 | 1 | 272 | 0.0037 | 3126 | c.389 others(3145): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(3120): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 268 | 0.0037 | 3127 | c.136 others(3144): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3120): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0345 | 1 | 352 | 0.0028 | 3127 | c.839 others(3144): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DOC2B_chr17_137789_186650 | 140794 | A | AGGGGGGC others(3120): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0269 | 1 | 339 | 0.0030 | 3127 | c.*66 others(3138): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1994 | chr17 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3120): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 264 | 0.0038 | 3127 | c.400 others(3146): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0098 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0029 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0120 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02071.hp1 HG02155.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0090a0001c0006t0001g0118a0002c0003t0001g0076others(4): Show | 7 | 203 | 0.0345 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0188 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01346.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0113others(10): Show | 13 | 203 | 0.0640 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01943.hp2 |
a0001 | a0001c0002a0001c0043 | a0001c0002t0001a0001c0043t0001 | a0001c0002t0001g0109a0001c0043t0001g0184 | 2 | 203 | 0.0099 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0158 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0181 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19030.hp2 |
a0001a0003 | a0001c0004a0003c0012 | a0001c0004t0011a0003c0012t0007 | a0001c0004t0011g0194a0003c0012t0007g0195 | 2 | 203 | 0.0099 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0131 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3120): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 203 | 0.0049 | 3127 | c.-12 others(3146): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 140794 | A | AGGGGGGC others(3120): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 402 | 0.0025 | 3127 | c.*18 others(3138): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1728 | chr17 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313409 | T | TCCCAGTG others(3120): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 344 | 0.0029 | 3127 | c.327 others(3144): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3120): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0010 | 1 | 272 | 0.0037 | 3127 | c.389 others(3146): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3121): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0340 | 1 | 352 | 0.0028 | 3128 | c.839 others(3145): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3121): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206a0001c0002t0001g0250 | 2 | 345 | 0.0058 | 3128 | c.*17 others(3139): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3121): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0304 | 1 | 345 | 0.0029 | 3128 | c.*17 others(3139): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar |