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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUPT20HL2_chrX_24303210_24319069 | 24311767 | AAGCAGGA others(44): Show |
A | conservative_inframe_deletion | MODERATE | HG01928.hp1 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0000 | 1 | 285 | 0.0035 | -51 | c.149 others(60): Show |
p.Val others(13): Show |
SUPT20HL2 | ENSG00000223611.7 | transcript | ENST00000486479.3 | protein_coding | 1/1 | 2302/5860 | 1498/2454 | 500/817 | chrX | TogoVar | |||
SYNE3_chr14_95402266_95521650 | 95423552 | CATGGGGA others(44): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02451.hp2 HG03195.hp1 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0019a0001c0039others(4): Show | a0001c0001t0001a0001c0001t0049a0001c0001t0208others(6): Show | a0001c0001t0001g0261 a0001c0001t0049g0023 a0001c0001t0208g0011 others(6): Show |
9 | 264 | 0.0341 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95423862 | GGGATTTG others(44): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02056.hp1 others(2): Show |
a0001a0004a0006 | a0001c0077a0004c0005a0006c0013others(1): Show | a0001c0077t0104a0004c0005t0105a0006c0013t0154others(1): Show | a0001c0077t0104g0132 a0004c0005t0105g0116 a0006c0013t0154g0324 others(2): Show |
5 | 381 | 0.0131 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95423865 | ATTTGATG others(44): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18942.hp1 NA18946.hp1 others(5): Show |
a0004a0005a0006 | a0004c0003a0004c0005a0005c0009others(1): Show | a0004c0003t0013a0004c0005t0019a0005c0009t0013others(2): Show | a0004c0003t0013g0120 a0004c0003t0013g0179 a0004c0005t0019g0205 others(5): Show |
8 | 244 | 0.0328 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95423879 | GGGTTTTG others(44): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG03225.hp2 NA18948.hp1 |
a0006a0027 | a0006c0016a0006c0018a0027c0074 | a0006c0016t0158a0006c0018t0004a0027c0074t0117 | a0006c0016t0158g0243 a0006c0018t0004g0113 a0027c0074t0117g0359 |
3 | 283 | 0.0106 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 158095350 | TCTGATTA others(44): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0036 | a0002c0036t0025 | a0002c0036t0025g0033 | 1 | 310 | 0.0032 | -51 | c.374 others(68): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 26/26 | chr6 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63408177 | AGAAAGAA others(44): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0106 | 1 | 246 | 0.0041 | -51 | c.85- others(68): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19252391 | ATACATAT others(44): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0006g0083 a0001c0001t0010g0226 a0001c0001t0012g0006 others(2): Show |
5 | 74 | 0.0676 | -51 | c.122 others(72): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158704814 | AGTGACAG others(44): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0084 others(97): Show |
100 | 232 | 0.4310 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158704960 | AGGGCAGG others(44): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0122 a0004c0003t0001g0123 |
2 | 237 | 0.0084 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158705117 | ACAGGGTG others(44): Show |
A | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 288 | 0.0035 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TACR3_chr4_103581031_103724985 | 103650673 | TATATTAT others(44): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0108 a0001c0001t0001g0129 others(54): Show |
58 | 278 | 0.2086 | -51 | c.888 others(68): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
TACR3_chr4_103581031_103724985 | 103650681 | ATCATATA others(44): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0151 | 1 | 275 | 0.0036 | -51 | c.888 others(68): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
TAF4B_chr18_26221445_26396685 | 26303044 | TCCTCCAC others(44): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0010 | a0010c0022 | a0010c0022t0002 | a0010c0022t0002g0189 | 1 | 189 | 0.0053 | -51 | c.183 others(70): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TAFA1_chr3_67999247_68550621 | 68418418 | CTTAAGGG others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 others(65): Show |
68 | 156 | 0.4359 | -51 | c.259 others(68): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TARBP1_chr1_234386313_234484179 | 234397427 | GGGGGAAG others(44): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp1 |
a0001a0002 | a0001c0064a0002c0058 | a0001c0064t0001a0002c0058t0001 | a0001c0064t0001g0149 a0002c0058t0001g0103 |
2 | 272 | 0.0074 | -51 | c.424 others(68): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46859430 | GATAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 108 | 0.0093 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859620 | ACCAGAAT others(44): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0040 a0001c0001t0004g0024 a0001c0001t0005g0107 others(1): Show |
4 | 112 | 0.0357 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859795 | GGTCCGCG others(44): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show |
4 | 112 | 0.0357 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860014 | CGTGCCCC others(44): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show |
4 | 92 | 0.0435 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860097 | GATAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 109 | 0.0092 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860133 | ACCAGAAT others(44): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 111 | 0.0090 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBX22_chrX_80009753_80036774 | 80035012 | CATGGGTT others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 324 | 0.0031 | -51 | c.*39 others(62): Show |
TBX22 | ENSG00000122145.15 | transcript | ENST00000373296.8 | protein_coding | 3239 | chrX | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139865585 | AAGGAGGA others(44): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 261 | 0.0038 | -51 | c.90- others(66): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TCAF1_chr7_143846375_143907176 | 143859952 | ATTACGGA others(44): Show |
A | intron_variant | MODIFIER | NA18998.hp2 NA19009.hp2 NA19056.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0004t0001g0169 |
3 | 254 | 0.0118 | -51 | c.216 others(68): Show |
TCAF1 | ENSG00000198420.10 | transcript | ENST00000479870.6 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
TCHH_chr1_152101317_152120444 | 152112018 | TGCTGCTC others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG02132.hp1 |
a0024 | a0024c0027 | a0024c0027t0003 | a0024c0027t0003g0032 | 2 | 399 | 0.0050 | -51 | c.114 others(60): Show |
p.Leu others(13): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1283/6985 | 1148/5832 | 383/1943 | chr1 | TogoVar | |||
TECPR2_chr14_102357941_102507477 | 102379440 | GAAGATCA others(44): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02717.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0007a0004c0004t0043others(3): Show | a0004c0004t0006g0143 a0004c0004t0006g0144 a0004c0004t0006g0145 others(15): Show |
18 | 332 | 0.0542 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TECPR2_chr14_102357941_102507477 | 102379630 | CTAGTCAC others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0035others(12): Show | a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0001g0216 others(103): Show |
106 | 332 | 0.3193 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TECPR2_chr14_102357941_102507477 | 102379883 | TCCTAGTC others(44): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 313 | 0.0032 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TECTB_chr10_112278400_112310038 | 112300268 | AAGAAAGA others(44): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0016 a0001c0001t0001g0170 a0001c0001t0006g0013 others(1): Show |
6 | 436 | 0.0138 | -51 | c.907 others(66): Show |
TECTB | ENSG00000119913.6 | transcript | ENST00000646139.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 167859974 | CGCCCGGC others(44): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp1 HG02818.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0023a0001c0026others(6): Show | a0001c0003t0002a0001c0023t0009a0001c0026t0009others(6): Show | a0001c0003t0002g0007 a0001c0023t0009g0004 a0001c0026t0009g0005 others(6): Show |
9 | 53 | 0.1698 | -51 | c.503 others(70): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82359746 | TCCCTCAG others(44): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0041 others(2): Show |
9 | 248 | 0.0363 | -51 | c.-27 others(68): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82360429 | TCAGGTTC others(44): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0043 | 1 | 376 | 0.0027 | -51 | c.-27 others(70): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82360712 | TCAGTTTC others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 375 | 0.0027 | -51 | c.-27 others(70): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX55_chr3_119141165_119156456 | 119153640 | AGTATTCT others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0004 | 1 | 466 | 0.0021 | -51 | c.*23 others(62): Show |
TEX55 | ENSG00000163424.9 | transcript | ENST00000295622.6 | protein_coding | 2185 | chr3 | TogoVar | |||||||
TFAP2D_chr6_50708526_50778033 | 50757755 | CTATATAT others(44): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0047 others(1): Show |
4 | 309 | 0.0129 | -51 | c.113 others(70): Show |
TFAP2D | ENSG00000008197.5 | transcript | ENST00000008391.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TFAP2E_chr1_35568314_35600328 | 35576928 | CGCGGGAC others(44): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(93): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 others(62): Show |
96 | 113 | 0.8496 | -51 | c.562 others(68): Show |
TFAP2E | ENSG00000116819.9 | transcript | ENST00000373235.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TFDP2_chr3_141939428_142154544 | 141968314 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0054 | a0001c0001t0022g0212 a0001c0001t0022g0213 a0001c0001t0054g0197 |
3 | 250 | 0.0120 | -51 | c.732 others(68): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376771 | TGCCCCCA others(44): Show |
T | upstream_gene_variant | MODIFIER | NA18959.hp2 NA19003.hp2 NA19086.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0333 a0003c0003t0001g0028 |
3 | 368 | 0.0082 | -51 | c.-85 others(60): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 746 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377294 | CCCCACCC others(44): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0005 | a0005c0009 | a0005c0009t0029 | a0005c0009t0029g0125 | 1 | 367 | 0.0027 | -51 | c.-13 others(62): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1269 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377320 | CCCCCACC others(44): Show |
C | upstream_gene_variant | MODIFIER | NA18951.hp2 NA18967.hp2 NA18985.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0300 others(3): Show |
6 | 338 | 0.0178 | -51 | c.-14 others(62): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1295 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377418 | CTGTGCCC others(44): Show |
C | upstream_gene_variant | MODIFIER | NA18963.hp2 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0160 | 1 | 356 | 0.0028 | -51 | c.-14 others(62): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1393 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377529 | CCCCACCC others(44): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02965.hp1 NA20300.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0011a0005c0009t0008 | a0001c0001t0011g0059 a0005c0009t0008g0123 a0005c0009t0008g0124 |
3 | 368 | 0.0082 | -51 | c.-16 others(62): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1504 | chr19 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 136890356 | TTCTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 96 | 0.0104 | -51 | c.139 others(68): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31210703 | AAGAGAAA others(44): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp1 HG03139.hp2 others(1): Show |
a0003 | a0003c0005a0003c0008a0003c0014others(1): Show | a0003c0005t0012a0003c0008t0006a0003c0014t0001others(1): Show | a0003c0005t0012g0080 a0003c0008t0006g0136 a0003c0014t0001g0146 others(1): Show |
4 | 188 | 0.0213 | -51 | c.221 others(68): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 10/27 | chr21 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72840886 | ACCCCCCC others(44): Show |
A | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0018 | 1 | 175 | 0.0057 | -51 | c.*49 others(62): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2590 | chr9 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19434322 | TAGATCTA others(44): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0014 | a0003c0014t0023 | a0003c0014t0023g0010 | 1 | 334 | 0.0030 | -51 | c.-80 others(68): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19003371 | TCTGCCCG others(44): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 |
3 | 280 | 0.0107 | -51 | c.68- others(66): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113525564 | GAGACGAC others(44): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0131 a0001c0001t0001g0136 others(6): Show |
10 | 366 | 0.0273 | -51 | c.134 others(70): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113525583 | GGTTATTC others(44): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0013 | a0013c0021 | a0013c0021t0002 | a0013c0021t0002g0056 | 1 | 365 | 0.0027 | -51 | c.134 others(70): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |