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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRG1_chr16_57623630_57670567 | 57661692 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00609.hp1 HG00621.hp1 others(121): Show |
a0001a0002a0010 | a0001c0001a0001c0022a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0014a0001c0001t0001g0031a0001c0001t0001g0045others(117): Show | 124 | 448 | 0.2768 | 0 | c.166 others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 12/13 | chr16 | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19019669 | G | GGA | splice_region_variant others(1): Show |
LOW | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 188 | 0.0053 | 2 | c.644 others(13): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 14/28 | chrX | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19023409 | G | A | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 188 | 0.0053 | 0 | c.548 others(5): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 13/28 | chrX | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19082703 | T | C | splice_region_variant | LOW | HG02622.hp1 HG02717.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041a0001c0001t0005g0056a0001c0001t0005g0057others(2): Show | 5 | 188 | 0.0266 | 0 | c.-3A others(2): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/29 | chrX | TogoVar | ||||||
ADGRG3_chr16_57663306_57694378 | 57680261 | C | G | splice_region_variant others(1): Show |
LOW | HG06807.hp2 | a0001 | a0001c0019 | a0001c0019t0009 | a0001c0019t0009g0262 | 1 | 448 | 0.0022 | 0 | c.668 others(5): Show |
ADGRG3 | ENSG00000182885.17 | transcript | ENST00000333493.9 | protein_coding | 6/11 | chr16 | TogoVar | ||||||
ADGRG3_chr16_57663306_57694378 | 57680499 | C | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02922.hp2 NA21309.hp1 |
a0001a0002 | a0001c0017a0002c0004a0002c0022 | a0001c0017t0012a0002c0004t0012a0002c0022t0012 | a0001c0017t0012g0324a0002c0004t0012g0297a0002c0022t0012g0298 | 3 | 448 | 0.0067 | 0 | c.769 others(5): Show |
ADGRG3 | ENSG00000182885.17 | transcript | ENST00000333493.9 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
ADGRG5_chr16_57537643_57582189 | 57562377 | C | G | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02895.hp1 HG02897.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0020a0002c0004t0005 | a0001c0002t0020g0020a0002c0004t0005g0111 | 3 | 406 | 0.0074 | 0 | c.65- others(4): Show |
ADGRG5 | ENSG00000159618.16 | transcript | ENST00000349457.8 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
ADGRG5_chr16_57537643_57582189 | 57570411 | C | G | splice_region_variant others(1): Show |
LOW | HG01981.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 2 | 406 | 0.0049 | 0 | c.109 others(6): Show |
ADGRG5 | ENSG00000159618.16 | transcript | ENST00000349457.8 | protein_coding | 9/11 | chr16 | TogoVar | ||||||
ADGRG6_chr6_142297007_142451261 | 142417266 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 260 | 0.0039 | 0 | c.293 others(6): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 20/24 | chr6 | TogoVar | ||||||
ADGRG6_chr6_142297007_142451261 | 142438209 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02257.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0019a0001c0007t0006 | a0001c0001t0006g0243a0001c0001t0006g0244a0001c0001t0019g0252others(2): Show | 5 | 260 | 0.0192 | 0 | c.342 others(6): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 23/24 | chr6 | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100655896 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 128 | 340 | 0.3765 | 0 | c.172 others(6): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
ADGRL2_chr1_81795934_81998932 | 81801073 | G | A | splice_region_variant others(1): Show |
LOW | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 306 | 0.0033 | 0 | c.-10 others(6): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 1/23 | chr1 | TogoVar | ||||||
ADGRL2_chr1_81795934_81998932 | 81969387 | G | A | splice_region_variant others(1): Show |
LOW | HG01069.hp1 | a0010 | a0010c0015 | a0010c0015t0136 | a0010c0015t0136g0284 | 1 | 306 | 0.0033 | 0 | c.273 others(4): Show |
p.Ala others(6): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 15/24 | 2968/7432 | 2733/4410 | 911/1469 | chr1 | TogoVar | ||
ADGRL2_chr1_81795934_81998932 | 81969395 | C | T | splice_region_variant others(1): Show |
LOW | NA18947.hp1 NA18974.hp1 NA18979.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0048others(2): Show | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | 306 | 0.0327 | 0 | c.273 others(6): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 15/23 | chr1 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61934836 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0056others(43): Show | 46 | 58 | 0.7931 | 0 | c.211 others(6): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 13/26 | chr4 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61979772 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01109.hp2 HG01169.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0056others(22): Show | 25 | 58 | 0.4310 | 0 | c.301 others(4): Show |
p.Pro others(7): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 18/27 | 4694/13738 | 3015/4632 | 1005/1543 | chr4 | TogoVar | ||
ADGRL4_chr1_78884764_79011730 | 78921605 | T | C | splice_region_variant others(1): Show |
LOW | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 390 | 0.0026 | 0 | c.125 others(6): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 9/14 | chr1 | TogoVar | ||||||
ADGRL4_chr1_78884764_79011730 | 78946266 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(64): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(64): Show | 67 | 390 | 0.1718 | 0 | c.325 others(5): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ADGRL4_chr1_78884764_79011730 | 78946276 | A | G | missense_variant others(1): Show |
MODERATE | HG03490.hp2 HG03492.hp1 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0005 | 2 | 390 | 0.0051 | 0 | c.323 others(3): Show |
p.Ile others(6): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 3/15 | 399/3539 | 323/2073 | 108/690 | chr1 | TogoVar | ||
ADGRV1_chr5_90553797_91169437 | 90629546 | G | A | splice_region_variant others(1): Show |
LOW | HG01361.hp2 HG01884.hp1 HG02572.hp1 others(1): Show |
a0019a0065a0066 | a0019c0015a0065c0079a0066c0080 | a0019c0015t0001a0065c0079t0001a0066c0080t0001 | a0019c0015t0001g0006a0019c0015t0001g0010a0065c0079t0001g0011others(1): Show | 4 | 158 | 0.0253 | 0 | c.183 others(6): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 9/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90642770 | C | T | splice_region_variant others(1): Show |
LOW | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(127): Show |
a0001a0002a0003others(65): Show | a0001c0002a0001c0012a0001c0017others(81): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(85): Show | a0001c0002t0001g0028a0001c0002t0001g0071a0001c0002t0001g0073others(127): Show | 130 | 158 | 0.8228 | 0 | c.236 others(6): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 12/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90681308 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0012 | 1 | 158 | 0.0063 | 0 | c.552 others(6): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 26/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90694707 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02976.hp1 HG03130.hp1 |
a0001a0035 | a0001c0017a0035c0090 | a0001c0017t0004a0035c0090t0004 | a0001c0017t0004g0095a0001c0017t0004g0099a0035c0090t0004g0100 | 3 | 158 | 0.0190 | 0 | c.794 others(6): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 33/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90783117 | A | G | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02615.hp2 HG02976.hp2 others(1): Show |
a0033a0047a0060others(1): Show | a0033c0099a0047c0061a0060c0048others(1): Show | a0033c0099t0001a0047c0061t0001a0060c0048t0003others(1): Show | a0033c0099t0001g0001a0047c0061t0001g0025a0060c0048t0003g0065others(1): Show | 4 | 158 | 0.0253 | 0 | c.132 others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 65/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90788064 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0030 | a0030c0022 | a0030c0022t0001 | a0030c0022t0001g0141 | 1 | 158 | 0.0063 | 0 | c.136 others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 67/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90788066 | C | T | splice_region_variant others(1): Show |
LOW | HG03834.hp2 HG04184.hp2 |
a0006a0008 | a0006c0036a0008c0014 | a0006c0036t0005a0008c0014t0005 | a0006c0036t0005g0124a0008c0014t0005g0106 | 2 | 158 | 0.0127 | 0 | c.136 others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 67/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90791344 | C | G | missense_variant others(1): Show |
MODERATE | NA18747.hp2 NA19082.hp2 |
a0020 | a0020c0041a0020c0042 | a0020c0041t0001a0020c0042t0001 | a0020c0041t0001g0129a0020c0042t0001g0143 | 2 | 158 | 0.0127 | 0 | c.145 others(5): Show |
p.Gln others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 70/90 | 14614/19557 | 14515/18921 | 4839/6306 | chr5 | TogoVar | ||
ADGRV1_chr5_90553797_91169437 | 91150009 | C | CT | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01884.hp1 HG02083.hp1 others(5): Show |
a0002a0006a0007others(5): Show | a0002c0001a0006c0036a0007c0019others(5): Show | a0002c0001t0001a0006c0036t0005a0007c0019t0001others(5): Show | a0002c0001t0001g0047a0006c0036t0005g0124a0007c0019t0001g0064others(5): Show | 8 | 158 | 0.0506 | 1 | c.184 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 87/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 91153214 | T | C | splice_region_variant others(1): Show |
LOW | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(138): Show |
a0001a0002a0003others(65): Show | a0001c0002a0001c0012a0001c0017others(87): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(91): Show | a0001c0002t0001g0071a0001c0002t0001g0073a0001c0002t0001g0076others(138): Show | 141 | 158 | 0.8924 | 0 | c.186 others(7): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 88/89 | chr5 | TogoVar | ||||||
ADH1B_chr4_99299971_99326401 | 99310760 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02280.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0059a0001c0001t0061others(1): Show | a0001c0001t0053g0140a0001c0001t0059g0138a0001c0001t0061g0111others(1): Show | 4 | 364 | 0.0110 | 0 | c.110 others(6): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
ADH1B_chr4_99299971_99326401 | 99318187 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0057 | a0001c0001t0055g0055a0001c0001t0057g0058 | 2 | 364 | 0.0055 | 0 | c.121 others(5): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
ADH1C_chr4_99331497_99357746 | 99345173 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(63): Show |
a0002a0005 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0001a0002c0004t0002a0002c0006t0001others(1): Show | a0002c0003t0001g0019a0002c0003t0001g0028a0002c0003t0001g0029others(42): Show | 66 | 360 | 0.1833 | 0 | c.347 others(5): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
ADH4_chr4_99118658_99149297 | 99124464 | A | C | missense_variant others(1): Show |
MODERATE | HG02071.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0080 | 1 | 338 | 0.0030 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 9/9 | 1196/2002 | 1121/1143 | 374/380 | chr4 | TogoVar | ||
ADH4_chr4_99118658_99149297 | 99124465 | C | T | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(300): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0004a0004c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 303 | 338 | 0.8965 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 9/9 | 1195/2002 | 1120/1143 | 374/380 | chr4 | TogoVar | ||
ADH4_chr4_99118658_99149297 | 99126739 | T | A | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0003a0005c0010t0003 | a0001c0001t0003g0008a0001c0001t0003g0022a0001c0001t0003g0023others(3): Show | 15 | 338 | 0.0444 | 0 | c.980 others(5): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
ADH5_chr4_99065978_99093788 | 99072718 | G | T | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01069.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010a0001c0001t0003g0014a0001c0001t0003g0020others(6): Show | 15 | 336 | 0.0446 | 0 | c.962 others(5): Show |
ADH5 | ENSG00000197894.12 | transcript | ENST00000296412.14 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
ADH7_chr4_99407263_99440342 | 99420534 | A | G | missense_variant others(1): Show |
MODERATE | HG01070.hp1 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0121 | 1 | 416 | 0.0024 | 0 | c.824 others(3): Show |
p.Met others(6): Show |
ADH7 | ENSG00000196344.12 | transcript | ENST00000437033.7 | protein_coding | 6/9 | 933/2119 | 824/1125 | 275/374 | chr4 | TogoVar | ||
ADH7_chr4_99407263_99440342 | 99428636 | T | C | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 2 | 416 | 0.0048 | 0 | c.121 others(5): Show |
ADH7 | ENSG00000196344.12 | transcript | ENST00000437033.7 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
ADH7_chr4_99407263_99440342 | 99429641 | A | C | splice_region_variant others(1): Show |
LOW | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 416 | 0.0024 | 0 | c.19- others(4): Show |
ADH7 | ENSG00000196344.12 | transcript | ENST00000437033.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
ADHFE1_chr8_66427504_66473907 | 66456812 | T | C | splice_region_variant others(1): Show |
LOW | HG03710.hp2 HG03942.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031 | 2 | 402 | 0.0050 | 0 | c.987 others(5): Show |
ADHFE1 | ENSG00000147576.17 | transcript | ENST00000396623.8 | protein_coding | 10/13 | chr8 | TogoVar | ||||||
ADI1_chr2_3492366_3524531 | 3513980 | A | C | splice_region_variant others(1): Show |
LOW | HG02622.hp1 HG02818.hp2 HG03471.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0243a0001c0001t0004g0060a0001c0001t0007g0028others(6): Show | 11 | 392 | 0.0281 | 0 | c.121 others(5): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
ADIG_chr20_38576197_38593463 | 38588462 | T | C | splice_region_variant | LOW | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 372 | 0.0027 | 0 | c.*37 others(4): Show |
ADIG | ENSG00000182035.13 | transcript | ENST00000537425.3 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
ADIPOR1_chr1_202935832_202963312 | 202951172 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(308): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(112): Show | 311 | 442 | 0.7036 | 0 | c.-94 others(5): Show |
ADIPOR1 | ENSG00000159346.13 | transcript | ENST00000340990.10 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74224533 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 200 | 0.0050 | 0 | c.141 others(5): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74589262 | CT | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02055.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0089others(11): Show | 14 | 200 | 0.0700 | -1 | c.727 others(6): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADM2_chr22_50476543_50491437 | 50481957 | G | T | missense_variant others(1): Show |
MODERATE | NA19091.hp1 | a0004 | a0004c0009 | a0004c0009t0009 | a0004c0009t0009g0001 | 1 | 446 | 0.0022 | 0 | c.110 others(3): Show |
p.Arg others(5): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 2/3 | 342/4213 | 110/447 | 37/148 | chr22 | TogoVar | ||
ADM_chr11_10300073_10312397 | 10307395 | T | C | splice_region_variant | LOW | NA19009.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 2 | 408 | 0.0049 | 0 | c.*75 others(4): Show |
ADM | ENSG00000148926.10 | transcript | ENST00000278175.10 | protein_coding | 4/4 | chr11 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80133196 | T | G | splice_region_variant others(1): Show |
LOW | HG02818.hp2 HG02965.hp2 HG06807.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0022a0007c0014 | a0001c0001t0001a0001c0022t0001a0007c0014t0001 | a0001c0001t0001g0022a0001c0001t0001g0218a0001c0022t0001g0022others(1): Show | 4 | 388 | 0.0103 | 0 | c.198 others(5): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50904847 | A | T | splice_region_variant | LOW | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0024 | 1 | 358 | 0.0028 | 0 | c.-87 others(3): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 3/6 | chr20 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50904848 | T | A | splice_region_variant | LOW | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0024 | 1 | 358 | 0.0028 | 0 | c.-88 others(3): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 3/6 | chr20 | TogoVar |