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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 253 | 0.0040 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 267 | 0.0037 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | HG01981.hp1 HG01993.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 others(4): Show |
7 | 273 | 0.0256 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | 241 | 0.0083 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0025 | a0001c0001t0001g0238 a0001c0001t0004g0239 a0001c0001t0025g0240 |
3 | 242 | 0.0124 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(4): Show |
7 | 246 | 0.0285 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(822): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG01993.hp1 others(4): Show |
a0001a0043 | a0001c0001a0001c0004a0043c0095 | a0001c0001t0001a0001c0004t0002a0001c0004t0052others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0122 others(4): Show |
7 | 91 | 0.0769 | 829 | c.261 others(846): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(822): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0148 | 1 | 121 | 0.0083 | 829 | c.59- others(846): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGAGGA others(822): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0003 | 1 | 2 | 0.5000 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0109 | 1 | 2 | 0.5000 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG01255.hp2 HG04184.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0130 a0001c0005t0001g0131 |
2 | 3 | 0.6667 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0004a0001c0010a0001c0011 | a0001c0004t0001a0001c0010t0001a0001c0011t0001 | a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 others(3): Show |
6 | 7 | 0.8571 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159680730 | A | AATATACA others(822): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 90 | 0.0111 | 829 | c.64- others(846): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(822): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0127 | 1 | 132 | 0.0076 | 829 | c.531 others(846): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TAS2R4_chr7_141771674_141786691 | 141780979 | T | TAAGAACT others(822): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG02155.hp1 others(21): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0000 | 24 | 442 | 0.0543 | 829 | c.*16 others(840): Show |
TAS2R4 | ENSG00000127364.4 | transcript | ENST00000247881.4 | protein_coding | 1/1 | 1607 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(822): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0111 | 1 | 8 | 0.1250 | 829 | c.657 others(844): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028788 | G | GTCCTGAA others(822): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0082 | 1 | 169 | 0.0059 | 829 | c.225 others(848): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(822): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0209 | 1 | 99 | 0.0101 | 829 | c.392 others(846): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(822): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0099 | 1 | 68 | 0.0147 | 829 | c.218 others(846): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(822): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0088others(1): Show | a0001c0001t0004g0280 a0001c0001t0010g0279 a0001c0001t0088g0276 others(1): Show |
4 | 47 | 0.0851 | 829 | c.-1- others(846): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(823): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0226 | 1 | 12 | 0.0833 | 830 | c.387 others(849): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89158196 | A | ACACGCCT others(823): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG01978.hp1 |
a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0051 a0003c0007t0007g0052 |
2 | 340 | 0.0059 | 830 | c.*39 others(841): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 1964 | chr16 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(823): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0158 | 1 | 112 | 0.0089 | 830 | c.48- others(847): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318220 | C | CCAGCCTC others(823): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 254 | 0.0039 | 830 | c.-36 others(841): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3493 | chr5 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACACGG others(823): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0112 |
3 | 29 | 0.1034 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(823): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 27 | 0.0370 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(823): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 a0001c0001t0007g0046 |
5 | 31 | 0.1613 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(823): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 94 | 0.0106 | 830 | c.207 others(851): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(823): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 94 | 0.0106 | 830 | c.207 others(851): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(823): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011 | a0001c0001t0003g0239 a0001c0001t0005g0007 a0001c0001t0005g0059 others(2): Show |
5 | 6 | 0.8333 | 830 | c.266 others(847): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(823): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0023 | a0023c0067 | a0023c0067t0001 | a0023c0067t0001g0261 | 1 | 205 | 0.0049 | 830 | c.411 others(847): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 38 | 0.0263 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 38 | 0.0263 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19004.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0027g0163 |
3 | 40 | 0.0750 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0225 | 1 | 38 | 0.0263 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(823): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 4 | 0.2500 | 830 | c.342 others(849): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0186 | 1 | 42 | 0.0238 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0188 | 1 | 42 | 0.0238 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 42 | 0.0238 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 42 | 0.0238 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5666267 | T | TTTTTTAT others(823): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01099.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(5): Show | a0001c0001t0001g0054 a0001c0001t0001g0145 a0001c0003t0001g0203 others(7): Show |
10 | 289 | 0.0346 | 830 | c.871 others(845): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 7/21 | chr4 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539756 | T | TATATAAC others(823): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0020 | a0020c0027 | a0020c0027t0008 | a0020c0027t0008g0021 | 1 | 234 | 0.0043 | 830 | c.-21 others(841): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1512 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(823): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 234 | 0.0043 | 830 | c.157 others(847): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828481 | C | CTCCTCCC others(823): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 others(1): Show |
4 | 410 | 0.0098 | 830 | c.146 others(845): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807891 | C | CTCCCCCC others(823): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 306 | 0.0033 | 830 | c.*37 others(841): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3605 | chr2 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280705 | T | TATTGTAT others(823): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 351 | 0.0028 | 830 | c.41- others(845): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(823): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 11 | 0.0909 | 830 | c.104 others(849): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(823): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01978.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 349 | 0.0057 | 830 | c.-29 others(841): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(823): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 a0001c0001t0002g0285 |
2 | 211 | 0.0095 | 830 | c.-5+ others(845): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(823): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0185 | 1 | 106 | 0.0094 | 830 | c.321 others(849): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar |