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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNAP47_chr1_227730435_227786226 | 227751744 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0319 a0002c0002t0001g0041 a0002c0002t0001g0043 others(58): Show |
71 | 83 | 0.8554 | -7 | c.497 others(24): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227773127 | ATTTTTTT | A | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01261.hp1 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0069 a0003c0003t0001g0004 a0003c0003t0001g0006 others(5): Show |
12 | 234 | 0.0513 | -7 | c.111 others(26): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227781843 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(10): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0006c0007t0001 | a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 others(9): Show |
13 | 218 | 0.0596 | -7 | c.*11 others(18): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 618 | chr1 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61774648 | ATTTTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(98): Show |
110 | 239 | 0.4603 | -7 | c.535 others(24): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15441383 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0016 | a0001c0002t0006g0028 a0001c0002t0006g0029 a0001c0002t0006g0030 others(7): Show |
12 | 79 | 0.1519 | -7 | c.478 others(24): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15449557 | ATATATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG02258.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0074 a0001c0001t0004g0007 a0001c0001t0004g0156 others(6): Show |
10 | 300 | 0.0333 | -7 | c.733 others(24): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC5_chr15_66488468_66502762 | 66494184 | CCAGATTA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0002 a0001c0001t0003g0022 a0001c0001t0003g0032 others(11): Show |
98 | 426 | 0.2300 | -7 | c.*24 others(16): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 3/3 | 245 | chr15 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122318966 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(48): Show |
51 | 166 | 0.3072 | -7 | c.-47 others(24): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(2): Show |
5 | 28 | 0.1786 | -7 | c.-47 others(26): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127804100 | CTGAGAAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 others(199): Show |
202 | 260 | 0.7769 | -7 | c.115 others(26): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127817721 | CTTTTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG01243.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0156 others(21): Show |
24 | 192 | 0.1250 | -7 | c.124 others(28): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127994549 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0077 a0001c0001t0003g0073 others(4): Show |
7 | 39 | 0.1795 | -7 | c.177 others(26): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241026009 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02809.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0074a0002c0011a0002c0036others(4): Show | a0001c0074t0002a0002c0011t0011a0002c0011t0015others(6): Show | a0001c0074t0002g0088 a0002c0011t0011g0128 a0002c0011t0015g0036 others(7): Show |
10 | 62 | 0.1613 | -7 | c.214 others(24): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241047164 | AAAAAAGT | A | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01167.hp1 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0037a0001c0068a0002c0003others(19): Show | a0001c0037t0002a0001c0037t0020a0001c0068t0018others(26): Show | a0001c0037t0002g0314 a0001c0037t0020g0030 a0001c0068t0018g0320 others(36): Show |
39 | 342 | 0.1140 | -7 | c.127 others(26): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP200_chr2_96269338_96310546 | 96273662 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18939.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 a0001c0006t0001g0179 a0001c0006t0001g0180 others(2): Show |
7 | 296 | 0.0236 | -7 | c.*13 others(18): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 675 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69902187 | CTCCTCCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(261): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 others(97): Show |
264 | 438 | 0.6027 | -7 | c.349 others(22): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69902276 | CTCCTCCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0003g0004 others(24): Show |
97 | 438 | 0.2215 | -7 | c.349 others(22): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69904531 | GCGTCAAC | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(48): Show |
125 | 438 | 0.2854 | -7 | c.*22 others(16): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 6/6 | 225 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNRNP48_chr6_7585198_7616967 | 7613439 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0012a0001c0002t0036a0001c0005t0024 | a0001c0002t0012g0020 a0001c0002t0036g0020 a0001c0005t0024g0034 |
5 | 424 | 0.0118 | -7 | c.*45 others(18): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 1473 | chr6 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49093092 | CATTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(40): Show |
49 | 364 | 0.1346 | -7 | c.265 others(24): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101299183 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0049 others(3): Show |
6 | 198 | 0.0303 | -7 | c.-40 others(18): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3936 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40751591 | TTAACTCC | T | intron_variant | MODIFIER | HG00609.hp2 NA18969.hp1 NA19004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0002t0002g0222 others(1): Show |
4 | 410 | 0.0098 | -7 | c.73+ others(20): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40755257 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02027.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0051 others(11): Show |
19 | 243 | 0.0782 | -7 | c.74- others(22): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34752678 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01099.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(16): Show |
29 | 68 | 0.4265 | -7 | c.-48 others(18): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4826 | chr6 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24560715 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
208 | 230 | 0.9043 | -7 | c.126 others(24): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24575625 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01099.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0020 a0001c0001t0001g0134 a0001c0001t0001g0170 others(6): Show |
9 | 38 | 0.2368 | -7 | c.*36 others(18): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 655 | chr22 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203869289 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00642.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(23): Show |
86 | 91 | 0.9451 | -7 | c.224 others(22): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPG_chr2_70276362_70298740 | 70294846 | CGCTCCCG | C | upstream_gene_variant | MODIFIER | NA19009.hp2 NA19068.hp2 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0151 |
4 | 424 | 0.0094 | -7 | c.-12 others(18): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 1107 | chr2 | TogoVar | |||||||
SNRPN_chr15_24949987_24983723 | 24958486 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(42): Show |
94 | 134 | 0.7015 | -7 | c.-39 others(26): Show |
SNRPN | ENSG00000128739.23 | transcript | ENST00000390687.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNRPN_chr15_24949987_24983723 | 24966002 | TTAGAGTA | T | intron_variant | MODIFIER | NA18944.hp1 NA18973.hp1 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0133 |
4 | 344 | 0.0116 | -7 | c.-29 others(26): Show |
SNRPN | ENSG00000128739.23 | transcript | ENST00000390687.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNRPN_chr15_24949987_24983723 | 24968980 | GTTTACTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01346.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
9 | 344 | 0.0262 | -7 | c.-14 others(24): Show |
SNRPN | ENSG00000128739.23 | transcript | ENST00000390687.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNTB1_chr8_120530756_120817046 | 120561334 | AAAAAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0006t0001g0056 others(3): Show |
6 | 252 | 0.0238 | -7 | c.113 others(28): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120571478 | GGTTTTTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02970.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0175 a0001c0001t0001g0194 others(7): Show |
10 | 191 | 0.0524 | -7 | c.113 others(26): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120589121 | TTATACAC | T | intron_variant | MODIFIER | HG01192.hp2 HG02080.hp2 HG02148.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0002g0108 others(6): Show |
9 | 252 | 0.0357 | -7 | c.997 others(26): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120752987 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01192.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0142 a0001c0001t0001g0150 others(21): Show |
24 | 153 | 0.1569 | -7 | c.571 others(26): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120755138 | GGTGTTGT | G | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01071.hp1 others(73): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0070 others(73): Show |
76 | 251 | 0.3028 | -7 | c.571 others(26): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69227841 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00735.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0017a0001c0002t0018others(3): Show | a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 others(15): Show |
18 | 88 | 0.2045 | -7 | c.581 others(26): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69246903 | TGGGGGGA | T | intron_variant | MODIFIER | HG00621.hp1 HG02004.hp2 NA18968.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 others(3): Show |
6 | 216 | 0.0278 | -7 | c.794 others(24): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69295230 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0014others(2): Show | a0001c0001t0001g0108 a0001c0002t0004g0023 a0001c0002t0014g0070 others(6): Show |
9 | 87 | 0.1034 | -7 | c.134 others(26): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69304305 | TAGATAAG | T | 3_prime_UTR_variant | MODIFIER | NA19064.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0195 a0001c0001t0022g0196 |
2 | 216 | 0.0093 | -7 | c.*33 others(18): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 7/7 | 3384 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 49930491 | GATATATA | G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01071.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0086 a0001c0001t0002g0068 a0001c0001t0004g0072 others(42): Show |
45 | 106 | 0.4245 | -7 | c.-10 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50069583 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02895.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0010 a0001c0001t0004g0088 a0001c0001t0005g0018 others(13): Show |
16 | 55 | 0.2909 | -7 | c.-10 others(30): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50323846 | GACTCAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0086 a0001c0001t0002g0010 a0001c0001t0004g0088 others(20): Show |
23 | 106 | 0.2170 | -7 | c.-27 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50355247 | TTAATTAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02622.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0023others(6): Show | a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0006g0051 others(8): Show |
11 | 106 | 0.1038 | -7 | c.-27 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50403031 | ACATTATC | A | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0097 a0001c0001t0011g0099 |
2 | 106 | 0.0189 | -7 | c.162 others(22): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50425246 | CAGCAGGA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0086 a0001c0001t0002g0010 a0001c0001t0002g0013 others(72): Show |
75 | 106 | 0.7075 | -7 | c.163 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50462796 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0032 a0001c0001t0004g0072 others(2): Show |
5 | 58 | 0.0862 | -7 | c.363 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50484125 | TTTCTTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0046a0001c0002t0047a0002c0003t0018 | a0001c0001t0046g0104 a0001c0002t0047g0103 a0002c0003t0018g0045 |
3 | 105 | 0.0286 | -7 | c.364 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50515409 | TTTTTTTG | T | intron_variant | MODIFIER | HG01192.hp2 HG02886.hp1 HG03453.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0004g0072 a0001c0001t0005g0035 a0001c0001t0008g0071 others(6): Show |
9 | 106 | 0.0849 | -7 | c.466 others(26): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 956253 | CTGCGCCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02895.hp1 others(7): Show |
a0001a0003a0004others(3): Show | a0001c0002a0003c0007a0003c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0003c0007t0001others(6): Show | a0001c0002t0001g0069 a0001c0002t0002g0076 a0003c0007t0001g0068 others(7): Show |
10 | 188 | 0.0532 | -7 | c.72+ others(22): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | chr2 | TogoVar |