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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNIP1_chr1_37529449_37559293 | 37549097 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(13): Show | a0001c0001t0005g0016 a0001c0001t0005g0041 a0001c0001t0005g0042 others(31): Show |
45 | 394 | 0.1142 | 1 | c.327 others(9): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SNIP1_chr1_37529449_37559293 | 37551269 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 others(106): Show |
161 | 394 | 0.4086 | 1 | c.327 others(9): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SNIP1_chr1_37529449_37559293 | 37555580 | A | AT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(90): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0015 others(56): Show |
93 | 394 | 0.2360 | 1 | c.-13 others(12): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 1288 | chr1 | TogoVar | |||||||
SNN_chr16_11663455_11684152 | 11675258 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0056 others(7): Show |
22 | 440 | 0.0500 | 1 | c.-85 others(8): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNN_chr16_11663455_11684152 | 11683748 | C | CT | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG01891.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(13): Show |
37 | 440 | 0.0841 | 1 | c.*74 others(12): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 4597 | chr16 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232865533 | C | CT | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01192.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0013 others(3): Show |
25 | 452 | 0.0553 | 1 | c.-48 others(12): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 4730 | chr2 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232872817 | C | CT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0024g0011 |
10 | 452 | 0.0221 | 1 | c.73+ others(8): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNORC_chr2_232865264_232883700 | 232879420 | G | GC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00642.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(7): Show |
24 | 452 | 0.0531 | 1 | c.*30 others(12): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 721 | chr2 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232879976 | G | GC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0036 others(10): Show |
69 | 452 | 0.1527 | 1 | c.*36 others(12): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 1277 | chr2 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1261796 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0294 a0001c0001t0002g0076 a0001c0001t0002g0077 others(142): Show |
154 | 350 | 0.4400 | 1 | c.-52 others(12): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 4497 | chr20 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1262113 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(73): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0060 a0001c0001t0001g0294 a0001c0001t0002g0065 others(68): Show |
76 | 350 | 0.2171 | 1 | c.-48 others(12): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 4180 | chr20 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1262728 | A | AT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01884.hp1 others(26): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(16): Show | a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0072 others(26): Show |
29 | 350 | 0.0829 | 1 | c.-42 others(12): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 3565 | chr20 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1264066 | C | CA | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp2 HG01168.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(6): Show | a0001c0001t0002g0051 a0001c0001t0002g0065 a0001c0001t0002g0072 others(17): Show |
20 | 350 | 0.0571 | 1 | c.-29 others(12): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2227 | chr20 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1279618 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG02135.hp1 HG02300.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0042a0001c0002t0001 | a0001c0001t0003g0166 a0001c0001t0042g0155 a0001c0002t0001g0084 others(6): Show |
9 | 350 | 0.0257 | 1 | c.-49 others(11): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1286089 | T | TA | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0029others(2): Show | a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0105 others(11): Show |
14 | 350 | 0.0400 | 1 | c.-49 others(10): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1288619 | C | CT | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001a0001c0002t0004 | a0001c0001t0009g0265 a0001c0002t0001g0107 a0001c0002t0004g0109 others(1): Show |
4 | 350 | 0.0114 | 1 | c.-49 others(10): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1296298 | G | GC | frameshift_variant | HIGH | NA19078.hp2 | a0010 | a0010c0019 | a0010c0019t0028 | a0010c0019t0028g0278 | 1 | 350 | 0.0029 | 1 | c.65d others(3): Show |
p.Thr others(4): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 4/7 | 769/5593 | 66/1617 | 22/538 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNPH_chr20_1261294_1314327 | 1298852 | A | AT | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01175.hp1 others(47): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(6): Show | a0001c0001t0002g0072 a0001c0001t0002g0321 a0001c0001t0003g0070 others(42): Show |
50 | 350 | 0.1429 | 1 | c.290 others(9): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1300632 | A | AC | frameshift_variant | HIGH | NA19078.hp2 | a0010 | a0010c0019 | a0010c0019t0028 | a0010c0019t0028g0278 | 1 | 350 | 0.0029 | 1 | c.367 others(4): Show |
p.Leu others(5): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/7 | 1071/5593 | 368/1617 | 123/538 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SNPH_chr20_1261294_1314327 | 1301782 | T | TG | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0006a0001c0001t0017a0001c0002t0016others(1): Show | a0001c0001t0006g0009 a0001c0001t0006g0093 a0001c0001t0006g0145 others(6): Show |
11 | 350 | 0.0314 | 1 | c.440 others(18): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | chr20 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1312132 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0060 a0001c0001t0001g0173 a0001c0001t0001g0174 others(321): Show |
347 | 350 | 0.9914 | 1 | c.*60 others(12): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2806 | chr20 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43293752 | T | TA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0200 a0001c0003t0005g0201 a0001c0003t0005g0202 others(9): Show |
12 | 258 | 0.0465 | 1 | c.-16 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43293921 | G | GA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01109.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0018a0001c0002t0004others(2): Show | a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0018g0238 others(13): Show |
18 | 258 | 0.0698 | 1 | c.-16 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43297571 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01070.hp1 others(65): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0137 others(60): Show |
68 | 258 | 0.2636 | 1 | c.-16 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43300608 | G | GC | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01070.hp1 others(52): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0019others(6): Show | a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(50): Show |
55 | 258 | 0.2132 | 1 | c.-10 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43302638 | A | AT | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0008 a0001c0001t0001g0151 a0001c0001t0001g0183 others(5): Show |
9 | 258 | 0.0349 | 1 | c.-10 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43302871 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0018 | a0001c0001t0002g0015 a0001c0001t0002g0236 a0001c0001t0002g0237 others(3): Show |
8 | 258 | 0.0310 | 1 | c.-10 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43305480 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG00738.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0131 a0001c0001t0001g0223 a0001c0001t0002g0226 others(11): Show |
15 | 258 | 0.0581 | 1 | c.589 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43306268 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(234): Show |
251 | 258 | 0.9729 | 1 | c.589 others(18): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43309612 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(178): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(167): Show |
181 | 258 | 0.7016 | 1 | c.589 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43318356 | T | TA | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0147 a0001c0001t0006g0148 others(3): Show |
7 | 258 | 0.0271 | 1 | c.590 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43319027 | C | CA | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp2 HG01952.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0002g0032 others(4): Show |
7 | 258 | 0.0271 | 1 | c.590 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43320665 | G | GT | intron_variant | MODIFIER | HG02145.hp2 HG04184.hp1 NA18963.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0120 a0001c0001t0002g0073 a0001c0001t0002g0193 others(2): Show |
5 | 258 | 0.0194 | 1 | c.590 others(10): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43324727 | A | AT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
a0001a0004 | a0001c0002a0001c0008a0001c0011others(1): Show | a0001c0002t0004a0001c0008t0001a0001c0011t0021others(1): Show | a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 others(11): Show |
16 | 258 | 0.0620 | 1 | c.590 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43327957 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(198): Show |
212 | 258 | 0.8217 | 1 | c.590 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43328305 | G | GT | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0019 a0001c0001t0001g0140 a0001c0001t0002g0044 others(2): Show |
5 | 258 | 0.0194 | 1 | c.590 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43333358 | C | CA | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0005a0001c0011t0021 | a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0138 others(7): Show |
11 | 258 | 0.0426 | 1 | c.731 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43334460 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0162 a0001c0001t0001g0198 a0001c0001t0001g0199 others(2): Show |
5 | 258 | 0.0194 | 1 | c.731 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43334982 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(141): Show |
150 | 258 | 0.5814 | 1 | c.731 others(9): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43341156 | G | GT | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0001 | a0001c0001t0001g0120 a0001c0001t0001g0197 a0001c0001t0001g0198 others(2): Show |
5 | 258 | 0.0194 | 1 | c.944 others(8): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43347774 | G | GC | frameshift_variant | HIGH | HG02895.hp2 | a0004 | a0004c0012 | a0004c0012t0004 | a0004c0012t0004g0011 | 1 | 258 | 0.0039 | 1 | c.151 others(5): Show |
p.Pro others(5): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 7/7 | 1822/5188 | 1518/2298 | 506/765 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
SNRK_chr3_43281540_43356143 | 43348895 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 others(98): Show |
104 | 258 | 0.4031 | 1 | c.*34 others(5): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 7/7 | 343 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43353352 | C | CG | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02895.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0005 | a0001c0001t0001g0164 a0001c0001t0002g0136 a0001c0003t0005g0201 others(1): Show |
4 | 258 | 0.0155 | 1 | c.*47 others(12): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2210 | chr3 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96269641 | G | GT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01928.hp2 HG02027.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0034 others(14): Show |
17 | 352 | 0.0483 | 1 | c.*53 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 4696 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96270809 | C | CA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01175.hp2 HG02145.hp2 others(18): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0086 a0001c0001t0001g0130 a0001c0001t0001g0131 others(15): Show |
21 | 352 | 0.0597 | 1 | c.*42 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 3528 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96271605 | T | TA | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18939.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 a0001c0006t0001g0180 a0001c0006t0001g0181 others(2): Show |
7 | 352 | 0.0199 | 1 | c.*34 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 2732 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96272924 | T | TA | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02809.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 |
3 | 352 | 0.0085 | 1 | c.*20 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 1413 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96273662 | C | CA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 others(14): Show |
24 | 352 | 0.0682 | 1 | c.*13 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 675 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96276420 | A | AT | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0127 a0001c0001t0009g0082 others(8): Show |
11 | 352 | 0.0313 | 1 | c.617 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 43/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96280558 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00733.hp1 others(125): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(12): Show | a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 others(70): Show |
128 | 352 | 0.3636 | 1 | c.502 others(10): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 35/44 | chr2 | TogoVar |