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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMCHD1_chr18_2650726_2810017 | 2807547 | T | TAGATAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0160 | 1 | 338 | 0.0030 | 21 | c.*49 others(32): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 2531 | chr18 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93535787 | A | AAGCAGCA others(14): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 368 | 0.0027 | 21 | c.-15 others(40): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18849069 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0215 | 1 | 65 | 0.0154 | 21 | c.562 others(38): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 36/62 | chr16 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2130266 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01943.hp1 HG02132.hp2 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0030 a0002c0002t0001g0032 others(8): Show |
11 | 97 | 0.1134 | 21 | c.335 others(42): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2130281 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0009 | a0009c0008 | a0009c0008t0003 | a0009c0008t0003g0223 | 1 | 276 | 0.0036 | 21 | c.335 others(42): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43752902 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0021 | a0001c0001t0002g0076 a0002c0003t0021g0091 |
2 | 199 | 0.0101 | 21 | c.-7+ others(36): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 1/13 | chr19 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576685 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02071.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0078 a0001c0001t0021g0005 |
2 | 275 | 0.0073 | 21 | c.76- others(36): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39584481 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0139 a0001c0001t0004g0011 a0001c0001t0004g0166 others(7): Show |
10 | 45 | 0.2222 | 21 | c.76- others(38): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM28_chr6_138372905_138388486 | 138380787 | T | TAAATAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(41): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0003a0002c0003t0002 | a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(4): Show |
44 | 337 | 0.1306 | 21 | c.112 others(38): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM35_chr11_117998634_118091963 | 118045349 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 406 | 0.0025 | 21 | c.8-2 others(36): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM3_chr5_150773757_150801734 | 150797318 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 169 | 0.0059 | 21 | c.*16 others(32): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 585 | chr5 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129499488 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 35 | 0.0286 | 21 | c.-33 others(32): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69965377 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0041 a0001c0001t0005g0189 a0001c0001t0008g0002 others(3): Show |
7 | 239 | 0.0293 | 21 | c.379 others(40): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69965404 | T | TAATAATA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(20): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0024others(4): Show | a0001c0002t0001g0117 a0001c0002t0001g0257 a0001c0002t0002g0012 others(20): Show |
23 | 249 | 0.0924 | 21 | c.379 others(40): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4162790 | T | TCCAAGAT others(14): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 426 | 0.0023 | 21 | c.-26 others(40): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMPDL3B_chr1_27930000_27964152 | 27933785 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01361.hp2 HG02027.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0028 others(6): Show |
10 | 327 | 0.0306 | 21 | c.-13 others(32): Show |
SMPDL3B | ENSG00000130768.15 | transcript | ENST00000373894.8 | protein_coding | 1214 | chr1 | TogoVar | |||||||
SMPDL3B_chr1_27930000_27964152 | 27933785 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 318 | 0.0031 | 21 | c.-13 others(32): Show |
SMPDL3B | ENSG00000130768.15 | transcript | ENST00000373894.8 | protein_coding | 1214 | chr1 | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21944539 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0068 a0001c0001t0004g0104 a0001c0001t0006g0084 |
3 | 280 | 0.0107 | 21 | c.49+ others(36): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21988662 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 4 | 0.2500 | 21 | c.945 others(38): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMURF2_chr17_64537282_64667307 | 64573142 | A | AGGAGGAG others(14): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0074 |
2 | 167 | 0.0120 | 21 | c.858 others(38): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631281 | G | GAGAGAGA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 | 1 | 67 | 0.0149 | 21 | c.53- others(38): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245803403 | A | ATATGAAC others(14): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02071.hp1 NA18971.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0044 a0001c0001t0002g0051 a0002c0003t0001g0101 |
3 | 143 | 0.0210 | 21 | c.107 others(42): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246339508 | A | AAAAGATC others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02615.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0001others(3): Show | a0001c0002t0001g0070 a0001c0002t0002g0061 a0001c0006t0001g0068 others(3): Show |
6 | 150 | 0.0400 | 21 | c.229 others(38): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246505429 | G | GAGCAGCA others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 114 | 0.0088 | 21 | c.164 others(38): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0363 | 1 | 79 | 0.0127 | 21 | c.153 others(40): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 NA18946.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0013 | a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0004g0010 others(1): Show |
6 | 46 | 0.1304 | 21 | c.*36 others(32): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88682762 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 48 | 0.0208 | 21 | c.77- others(36): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42512327 | C | CTCTTAAG others(14): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01981.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009a0001c0002t0014 | a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 others(16): Show |
19 | 306 | 0.0621 | 21 | c.57+ others(34): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10238905 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02602.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0220 a0001c0001t0001g0238 a0001c0001t0001g0310 others(6): Show |
9 | 279 | 0.0323 | 21 | c.-64 others(40): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAPC5_chr15_66488468_66502762 | 66492401 | T | TGTATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 8 | 426 | 0.0188 | 21 | c.*20 others(32): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 1066 | chr15 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122330117 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0048 others(3): Show |
6 | 126 | 0.0476 | 21 | c.-47 others(40): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127652379 | G | GTCCTCCG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02602.hp1 HG03688.hp2 HG04199.hp1 others(1): Show |
a0003 | a0003c0005a0003c0008 | a0003c0005t0001a0003c0005t0003a0003c0008t0003 | a0003c0005t0001g0178 a0003c0005t0001g0181 a0003c0005t0003g0179 others(1): Show |
4 | 260 | 0.0154 | 21 | c.14_ others(26): Show |
p.Ala others(10): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 1/24 | 215/3448 | 35/2733 | 12/910 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SNIP1_chr1_37529449_37559293 | 37535239 | T | TATATATA others(14): Show |
3_prime_UTR_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0264 | 1 | 85 | 0.0118 | 21 | c.*25 others(32): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2508 | chr1 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43322951 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0212 |
2 | 8 | 0.2500 | 21 | c.590 others(38): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43348955 | C | CTCTGAGA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0106 | 1 | 256 | 0.0039 | 21 | c.*40 others(30): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 7/7 | 429 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0084 |
2 | 182 | 0.0110 | 21 | c.309 others(38): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34754978 | T | TAACAGCA others(14): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 366 | 0.0027 | 21 | c.-25 others(32): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2526 | chr6 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24561064 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18954.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0003 a0001c0002t0010g0009 |
2 | 247 | 0.0081 | 21 | c.126 others(38): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNTB1_chr8_120530756_120817046 | 120654039 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0004 | a0001c0001t0002g0047 a0001c0001t0002g0129 a0001c0001t0008g0074 others(1): Show |
4 | 37 | 0.1081 | 21 | c.789 others(40): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0008 | a0001c0001t0006g0049 a0001c0001t0006g0057 a0001c0001t0006g0058 others(2): Show |
5 | 128 | 0.0391 | 21 | c.580 others(40): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50115567 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 67 | 0.0149 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50115576 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG02145.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0086 a0001c0001t0004g0094 a0001c0001t0008g0061 others(14): Show |
17 | 94 | 0.1809 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50115576 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0089 | 1 | 78 | 0.0128 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50422270 | A | ATCTATCT others(14): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0002t0001g0082 |
3 | 5 | 0.6000 | 21 | c.163 others(40): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50701579 | T | TTTCTTCT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0102 a0001c0001t0005g0022 a0001c0001t0005g0024 others(4): Show |
7 | 78 | 0.0897 | 21 | c.103 others(40): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp1 HG02976.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0078 a0004c0004t0001g0047 a0004c0004t0001g0087 |
3 | 83 | 0.0361 | 21 | c.73- others(38): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1051157 | T | TCCCCCTT others(14): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02602.hp2 HG04115.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0014 a0001c0002t0001g0172 a0002c0005t0001g0022 |
3 | 100 | 0.0300 | 21 | c.73- others(38): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1278920 | A | ACGCGAAT others(14): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01192.hp1 others(15): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0007a0003c0008others(6): Show | a0001c0001t0001a0003c0007t0001a0003c0008t0001others(6): Show | a0001c0001t0001g0035 a0003c0007t0001g0019 a0003c0007t0001g0068 others(15): Show |
18 | 133 | 0.1353 | 21 | c.128 others(42): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26358806 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0219 | 1 | 362 | 0.0028 | 21 | c.25- others(36): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26358806 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0343 a0001c0001t0008g0211 |
2 | 363 | 0.0055 | 21 | c.25- others(36): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |