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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAMP1_chr5_78355617_78485739 | 78430084 | A | AGTATTTG others(407): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0182 | 1 | 311 | 0.0032 | 414 | c.632 others(431): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTATTTAT others(407): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 255 | 0.0039 | 414 | c.632 others(431): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430222 | T | TTATTTAT others(407): Show |
intron_variant | MODIFIER | NA18984.hp2 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 a0001c0002t0004g0035 |
2 | 302 | 0.0066 | 414 | c.632 others(431): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430222 | T | TTGTTTAT others(407): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 301 | 0.0033 | 414 | c.632 others(431): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431921 | T | TTAGGGTG others(407): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0212 | 1 | 150 | 0.0067 | 414 | c.101 others(433): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 626428 | C | CGTTCCTC others(407): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01071.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(18): Show | a0001c0001t0001g0007 a0001c0001t0001g0085 a0001c0001t0001g0134 others(20): Show |
24 | 183 | 0.1311 | 414 | c.-44 others(425): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4362 | chrX | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(407): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 25 | 0.0400 | 414 | c.914 others(433): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 117923608 | C | CATATATG others(407): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 92 | 0.0109 | 414 | c.173 others(433): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(407): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0007 | 1 | 280 | 0.0036 | 414 | c.-70 others(431): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(407): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 46 | 0.0217 | 414 | c.176 others(431): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC6A18_chr5_1220381_1251189 | 1238409 | G | GGCCTGGA others(407): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 433 | 0.0023 | 414 | c.732 others(429): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(407): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 | 1 | 112 | 0.0089 | 414 | c.212 others(433): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(407): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19030.hp1 NA19043.hp1 |
a0002a0003 | a0002c0005a0002c0033a0003c0008 | a0002c0005t0001a0002c0033t0001a0003c0008t0001 | a0002c0005t0001g0100 a0002c0033t0001g0126 a0003c0008t0001g0102 |
3 | 114 | 0.0263 | 414 | c.719 others(433): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(407): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0115 | 1 | 210 | 0.0048 | 414 | c.12+ others(429): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(407): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 54 | 0.0185 | 414 | c.-11 others(435): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(407): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 6 | 0.1667 | 414 | c.138 others(433): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
STK38L_chr12_27239286_27330959 | 27241748 | A | ATATATAT others(407): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 350 | 0.0029 | 414 | c.-25 others(425): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2537 | chr12 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(407): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 72 | 0.0139 | 414 | c.309 others(433): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(407): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 117 | 0.0085 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(407): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0255 a0001c0001t0023g0116 |
2 | 118 | 0.0169 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(407): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 117 | 0.0085 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620608 | C | CTATCCAC others(407): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 237 | 0.0042 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620640 | C | CACCCACC others(407): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 256 | 0.0039 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620645 | A | ACCCACCA others(407): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 253 | 0.0040 | 414 | c.113 others(433): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392405 | T | TCATACAC others(407): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0277 |
2 | 7 | 0.2857 | 414 | c.819 others(431): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628465 | A | ATGAGGCG others(407): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0333 | 1 | 121 | 0.0083 | 414 | c.299 others(431): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628904 | C | CAGGGGGT others(407): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0049 | 1 | 245 | 0.0041 | 414 | c.299 others(431): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272751 | A | ACACATCA others(407): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 374 | 0.0027 | 414 | c.228 others(431): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272785 | C | CCACACAT others(407): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 186 | 0.0054 | 414 | c.228 others(431): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273479 | A | ACATCAGA others(407): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 384 | 0.0026 | 414 | c.228 others(433): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748026 | G | GGTAGAAG others(407): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0261 | 1 | 274 | 0.0036 | 414 | c.189 others(429): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37097760 | T | TGTCCTGT others(407): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0036 | 1 | 135 | 0.0074 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097760 | T | TGTCCTGT others(407): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0004a0001c0005a0001c0007 | a0001c0004t0005a0001c0004t0012a0001c0005t0001others(2): Show | a0001c0004t0005g0260 a0001c0004t0012g0330 a0001c0005t0001g0080 others(2): Show |
5 | 139 | 0.0360 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097760 | T | TGTCCTGT others(407): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03017.hp2 HG03491.hp2 others(3): Show |
a0001a0003a0008 | a0001c0071a0001c0072a0003c0035others(2): Show | a0001c0071t0001a0001c0072t0001a0003c0035t0001others(2): Show | a0001c0071t0001g0268 a0001c0072t0001g0032 a0003c0035t0001g0022 others(3): Show |
6 | 140 | 0.0429 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(407): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02572.hp2 others(4): Show |
a0001a0005a0013 | a0001c0006a0001c0055a0005c0024others(1): Show | a0001c0006t0001a0001c0055t0001a0005c0024t0001others(1): Show | a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0055t0001g0305 others(3): Show |
7 | 17 | 0.4118 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(407): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 HG02698.hp2 others(1): Show |
a0001a0003a0010 | a0001c0006a0003c0002a0010c0076 | a0001c0006t0001a0003c0002t0001a0010c0076t0001 | a0001c0006t0001g0121 a0003c0002t0001g0140 a0003c0002t0001g0288 others(1): Show |
4 | 14 | 0.2857 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(407): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0075 | 1 | 11 | 0.0909 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(407): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0006others(12): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0006others(20): Show | a0001c0004t0001g0153 a0001c0004t0001g0306 a0001c0004t0002g0311 others(55): Show |
60 | 70 | 0.8571 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(407): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00733.hp1 others(48): Show |
a0001a0003a0004others(1): Show | a0001c0005a0001c0006a0001c0009others(10): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(14): Show | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(44): Show |
51 | 61 | 0.8361 | 414 | c.336 others(429): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCT others(407): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 46 | 0.0217 | 414 | c.-25 others(433): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377593 | T | TCTCCCCT others(407): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 108 | 0.0093 | 414 | c.-25 others(433): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNR_chr1_175310194_175748595 | 175650927 | C | CCTCATTA others(407): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 80 | 0.0125 | 414 | c.-16 others(435): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(407): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0104 a0001c0001t0003g0222 |
2 | 150 | 0.0133 | 414 | c.102 others(433): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(407): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 NA19062.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0005 | 2 | 116 | 0.0172 | 414 | c.*29 others(425): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(407): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 268 | 0.0037 | 414 | c.-47 others(425): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042957 | T | TGGGGGGA others(407): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0106 | 1 | 298 | 0.0034 | 414 | c.-34 others(425): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3389 | chr15 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(407): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0134 | 1 | 59 | 0.0169 | 414 | c.213 others(433): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024561 | A | ATAGTTAT others(407): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0133 | 1 | 142 | 0.0070 | 414 | c.427 others(433): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450493 | G | GTACATAT others(407): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 158 | 0.0063 | 414 | c.-15 others(435): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450545 | G | GTATACAT others(407): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 136 | 0.0074 | 414 | c.-15 others(435): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar |