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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM242_chr6_157284025_157328519 | 157313148 | G | GCTCACCC others(979): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0067 a0001c0005t0007g0005 |
3 | 299 | 0.0100 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0252 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0257 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0007 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 others(78): Show |
86 | 184 | 0.4674 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0188 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 a0001c0001t0006g0101 |
2 | 100 | 0.0200 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(66): Show |
72 | 170 | 0.4235 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0074 | 1 | 99 | 0.0101 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(979): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0172 | 1 | 339 | 0.0029 | 986 | c.783 others(1001): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(979): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01257.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0018 a0002c0002t0002g0179 a0002c0002t0004g0186 others(1): Show |
7 | 345 | 0.0203 | 986 | c.783 others(1001): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GGTTAGGG others(979): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 166 | 0.0060 | 986 | c.*49 others(997): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(979): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 986 | c.*29 others(997): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(979): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 83 | 0.0120 | 986 | c.392 others(1003): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(979): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0023 | 1 | 2 | 0.5000 | 986 | c.*53 others(997): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(980): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0033 | 1 | 44 | 0.0227 | 987 | c.108 others(1004): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(980): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0012 | a0003c0012t0033 | a0003c0012t0033g0078 | 1 | 244 | 0.0041 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(980): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0012 | a0003c0012t0034 | a0003c0012t0034g0015 | 1 | 244 | 0.0041 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(980): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0231 a0001c0001t0007g0049 |
2 | 207 | 0.0097 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(980): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 63 | 0.0159 | 987 | c.-36 others(998): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0100 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 a0001c0001t0006g0010 |
2 | 116 | 0.0172 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(90): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(90): Show |
93 | 207 | 0.4493 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0087 |
2 | 116 | 0.0172 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 115 | 0.0087 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0117 others(1): Show |
4 | 118 | 0.0339 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(980): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18962.hp2 NA19063.hp1 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0025 a0003c0007t0011g0106 a0003c0007t0011g0116 others(1): Show |
4 | 226 | 0.0177 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(980): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00738.hp1 others(9): Show |
a0003a0011 | a0003c0007a0003c0008a0003c0012others(2): Show | a0003c0007t0005a0003c0008t0001a0003c0008t0008others(4): Show | a0003c0007t0005g0001 a0003c0007t0005g0177 a0003c0008t0001g0010 others(9): Show |
12 | 234 | 0.0513 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872948 | G | GTGGTGTG others(980): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0039others(1): Show | a0001c0002t0007a0001c0004t0044a0001c0039t0039others(2): Show | a0001c0002t0007g0111 a0001c0002t0007g0237 a0001c0002t0007g0253 others(4): Show |
7 | 160 | 0.0438 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(980): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0016 | a0016c0027 | a0016c0027t0003 | a0016c0027t0003g0139 | 1 | 76 | 0.0132 | 987 | c.955 others(1004): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83022500 | G | GAGCTTAG others(980): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 a0001c0002t0001g0094 |
2 | 255 | 0.0078 | 987 | c.298 others(1004): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1433069 | T | TCAGCAGT others(980): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 337 | 0.0030 | 987 | c.92- others(1002): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(980): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 a0001c0001t0002g0156 a0001c0001t0002g0158 others(12): Show |
15 | 24 | 0.6250 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(980): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 a0001c0001t0003g0321 |
2 | 11 | 0.1818 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331550 | G | GGAAGGGA others(980): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 others(2): Show |
5 | 320 | 0.0156 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(980): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0101 | a0001c0001t0001g0047 a0001c0001t0101g0156 |
2 | 10 | 0.2000 | 987 | c.565 others(1004): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(980): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 174 | 0.0057 | 987 | c.342 others(1008): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(980): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 6 | 0.1667 | 987 | c.380 others(1004): 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(980): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 6 | 0.1667 | 987 | c.380 others(1004): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(980): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0176 | 1 | 97 | 0.0103 | 987 | c.923 others(1006): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(980): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 131 | 0.0076 | 987 | c.183 others(1006): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619366 | C | CCCCCCCG others(980): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 237 | 0.0042 | 987 | c.-10 others(1006): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |