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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UMAD1_chr7_7635752_7884223 | 7701392 | CTA | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024a0001c0001t0026others(6): Show | a0001c0001t0009g0123 a0001c0001t0024g0230 a0001c0001t0026g0226 others(7): Show |
10 | 250 | 0.0400 | -2 | c.82+ others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7741272 | CAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0003g0181 a0001c0001t0004g0144 a0001c0001t0008g0159 others(18): Show |
21 | 250 | 0.0840 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7745558 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(117): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0086 others(117): Show |
120 | 250 | 0.4800 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7746955 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0056 | a0001c0001t0001g0060 a0001c0001t0026g0056 a0001c0001t0026g0191 others(1): Show |
4 | 250 | 0.0160 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7753642 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0054 a0001c0001t0002g0046 a0001c0001t0003g0172 others(54): Show |
57 | 250 | 0.2280 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7767128 | CTT | C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(10): Show | a0001c0001t0002g0014 a0001c0001t0004g0012 a0001c0001t0013g0129 others(12): Show |
15 | 250 | 0.0600 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7767375 | TCG | T | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG02056.hp1 others(23): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0067 a0001c0001t0002g0083 a0001c0001t0003g0128 others(23): Show |
26 | 250 | 0.1040 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7777574 | AAT | A | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0061 others(9): Show |
12 | 250 | 0.0480 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778226 | TTG | T | intron_variant | MODIFIER | HG00140.hp1 HG02109.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0001t0003g0174 others(17): Show |
20 | 250 | 0.0800 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778296 | GAC | G | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0028a0001c0001t0032others(4): Show | a0001c0001t0020g0028 a0001c0001t0028g0178 a0001c0001t0032g0019 others(4): Show |
7 | 250 | 0.0280 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7782734 | CTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0016others(12): Show | a0001c0001t0004g0012 a0001c0001t0004g0170 a0001c0001t0014g0015 others(14): Show |
17 | 250 | 0.0680 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7784756 | CTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01106.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0017 a0001c0001t0001g0114 a0001c0001t0001g0117 others(44): Show |
47 | 250 | 0.1880 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7784794 | CTG | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0020others(6): Show | a0001c0001t0014g0219 a0001c0001t0016g0146 a0001c0001t0016g0148 others(7): Show |
10 | 250 | 0.0400 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7790100 | GCT | G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0020others(9): Show | a0001c0001t0014g0015 a0001c0001t0014g0219 a0001c0001t0016g0148 others(12): Show |
15 | 250 | 0.0600 | -2 | c.83- others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7802375 | TCA | T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(96): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0102 others(96): Show |
99 | 250 | 0.3960 | -2 | c.156 others(17): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7810206 | CAA | C | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00741.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 others(47): Show |
50 | 250 | 0.2000 | -2 | c.156 others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7812636 | GAT | G | intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(11): Show | a0001c0001t0001g0060 a0001c0001t0008g0155 a0001c0001t0009g0098 others(13): Show |
16 | 250 | 0.0640 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7827122 | GAT | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01255.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0062 others(26): Show |
29 | 250 | 0.1160 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7827147 | ATG | A | intron_variant | MODIFIER | HG02809.hp1 HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021a0001c0001t0035 | a0001c0001t0014g0015 a0001c0001t0021g0042 a0001c0001t0035g0161 |
3 | 250 | 0.0120 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7835462 | CTT | C | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0025others(3): Show | a0001c0001t0013g0129 a0001c0001t0017g0135 a0001c0001t0025g0001 others(3): Show |
7 | 250 | 0.0280 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7837718 | AAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 others(111): Show |
114 | 250 | 0.4560 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7838159 | AAG | A | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 HG02080.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0001t0001g0117 others(21): Show |
24 | 250 | 0.0960 | -2 | c.156 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7841314 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0054 others(51): Show |
54 | 250 | 0.2160 | -2 | c.157 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847056 | TAA | T | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 HG02132.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0073 others(22): Show |
25 | 250 | 0.1000 | -2 | c.157 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7860604 | CAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00741.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0114 others(65): Show |
68 | 250 | 0.2720 | -2 | c.157 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7860787 | AAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(52): Show | a0001c0001t0001g0017 a0001c0001t0002g0014 a0001c0001t0007g0039 others(87): Show |
91 | 250 | 0.3640 | -2 | c.157 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0114 others(42): Show |
45 | 250 | 0.1800 | -2 | c.157 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7871846 | CAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(15): Show | a0001c0001t0002g0116 a0001c0001t0005g0034 a0001c0001t0010g0140 others(20): Show |
23 | 250 | 0.0920 | -2 | c.157 others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7880024 | CAT | C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01256.hp1 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0025a0001c0001t0033others(2): Show | a0001c0001t0013g0129 a0001c0001t0025g0001 a0001c0001t0025g0095 others(3): Show |
7 | 250 | 0.0280 | -2 | c.*24 others(13): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 802 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7880425 | ATT | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0035a0001c0001t0041others(6): Show | a0001c0001t0027g0221 a0001c0001t0027g0228 a0001c0001t0027g0237 others(9): Show |
12 | 250 | 0.0480 | -2 | c.*28 others(13): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1203 | chr7 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42069229 | AAC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(30): Show |
a0001a0002a0003others(20): Show | a0001c0144a0002c0004a0003c0003others(23): Show | a0001c0144t0005a0002c0004t0001a0003c0003t0001others(23): Show | a0001c0144t0005g0252 a0002c0004t0001g0364 a0003c0003t0001g0257 others(30): Show |
33 | 400 | 0.0825 | -2 | c.-20 others(13): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2087 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42073007 | AGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001a0002a0003others(75): Show | a0001c0001a0001c0006a0001c0013others(111): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(134): Show | a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 others(199): Show |
204 | 400 | 0.5100 | -2 | c.76+ others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42073021 | TGC | T | intron_variant | MODIFIER | HG02040.hp1 HG04184.hp1 NA20752.hp2 |
a0001a0013a0132 | a0001c0006a0013c0156a0132c0139 | a0001c0006t0001a0013c0156t0003a0132c0139t0003 | a0001c0006t0001g0211 a0013c0156t0003g0212 a0132c0139t0003g0213 |
3 | 400 | 0.0075 | -2 | c.76+ others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGT | G | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01069.hp2 others(45): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0006a0001c0013others(37): Show | a0001c0001t0003a0001c0001t0005a0001c0006t0011others(40): Show | a0001c0001t0003g0059 a0001c0001t0003g0210 a0001c0001t0003g0334 others(45): Show |
48 | 400 | 0.1200 | -2 | c.319 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077525 | AAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(53): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0053a0002c0007others(31): Show | a0001c0001t0003a0001c0001t0005a0001c0053t0001others(36): Show | a0001c0001t0003g0110 a0001c0001t0005g0002 a0001c0001t0005g0101 others(52): Show |
56 | 400 | 0.1400 | -2 | c.319 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42082925 | CCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
a0001a0002a0003others(105): Show | a0001c0001a0001c0006a0001c0018others(163): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(193): Show | a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0060 others(285): Show |
290 | 400 | 0.7250 | -2 | c.320 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42084970 | AGT | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02258.hp1 others(3): Show |
a0016a0035a0095 | a0016c0033a0035c0175a0035c0176others(2): Show | a0016c0033t0006a0035c0175t0035a0035c0176t0001others(2): Show | a0016c0033t0006g0085 a0016c0033t0006g0086 a0035c0175t0035g0271 others(3): Show |
6 | 400 | 0.0150 | -2 | c.482 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 3/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42100999 | GCA | G | intron_variant | MODIFIER | NA18950.hp2 NA18973.hp2 NA18986.hp2 others(3): Show |
a0026a0107a0114others(3): Show | a0026c0039a0107c0179a0114c0086others(3): Show | a0026c0039t0001a0107c0179t0002a0114c0086t0004others(3): Show | a0026c0039t0001g0254 a0107c0179t0002g0192 a0114c0086t0004g0247 others(3): Show |
6 | 400 | 0.0150 | -2 | c.118 others(21): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42121368 | CGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001a0003a0004others(33): Show | a0001c0001a0001c0006a0001c0013others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(47): Show | a0001c0001t0001g0338 a0001c0001t0003g0017 a0001c0001t0003g0058 others(80): Show |
84 | 400 | 0.2100 | -2 | c.282 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42122662 | CGT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(96): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0013a0001c0053others(59): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(62): Show | a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0207 others(95): Show |
99 | 400 | 0.2475 | -2 | c.282 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42123480 | AGT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(110): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0013a0001c0143others(61): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(67): Show | a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0060 others(108): Show |
113 | 400 | 0.2825 | -2 | c.314 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42133618 | CCA | C | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 NA20300.hp1 |
a0032a0051a0131 | a0032c0034a0051c0119a0131c0147 | a0032c0034t0003a0051c0119t0001a0131c0147t0025 | a0032c0034t0003g0065 a0051c0119t0001g0152 a0131c0147t0025g0156 |
3 | 400 | 0.0075 | -2 | c.377 others(21): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42137520 | GAA | G | frameshift_variant | HIGH | HG02717.hp1 | a0086 | a0086c0109 | a0086c0109t0001 | a0086c0109t0001g0147 | 1 | 400 | 0.0025 | -2 | c.385 others(11): Show |
p.Thr others(6): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 22/23 | 3858/4879 | 3858/3957 | 1286/1318 | chr21 | TogoVar | |||
UMODL1_chr21_42066317_42147996 | 42145764 | CTT | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(15): Show |
a0001a0005a0010others(9): Show | a0001c0001a0005c0017a0010c0051others(9): Show | a0001c0001t0034a0005c0017t0037a0010c0051t0023others(9): Show | a0001c0001t0034g0309 a0005c0017t0037g0370 a0010c0051t0023g0162 others(14): Show |
18 | 400 | 0.0450 | -2 | c.*36 others(13): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2769 | chr21 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20340472 | GTA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(261): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(182): Show |
264 | 404 | 0.6535 | -2 | c.157 others(19): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02451.hp1 HG02683.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0041others(2): Show | a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0001t0007g0008 others(3): Show |
6 | 434 | 0.0138 | -2 | c.-36 others(13): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124728678 | CTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01978.hp1 HG03669.hp2 others(15): Show |
a0003 | a0003c0003a0003c0008 | a0003c0003t0008a0003c0003t0031a0003c0003t0045others(3): Show | a0003c0003t0008g0006 a0003c0003t0031g0006 a0003c0003t0031g0094 others(6): Show |
18 | 434 | 0.0415 | -2 | c.-17 others(13): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 1773 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124732967 | GGT | G | intron_variant | MODIFIER | HG00544.hp2 HG01978.hp1 HG03669.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0008 | a0001c0001t0044a0003c0003t0008a0003c0003t0031others(4): Show | a0001c0001t0044g0047 a0003c0003t0008g0006 a0003c0003t0031g0006 others(7): Show |
19 | 434 | 0.0438 | -2 | c.157 others(19): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124739844 | TAC | T | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp2 NA18939.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0014 a0002c0002t0002g0108 a0002c0002t0009g0014 |
8 | 434 | 0.0184 | -2 | c.983 others(17): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124745368 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(83): Show |
a0002a0006a0008 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0011others(15): Show | a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 others(39): Show |
86 | 434 | 0.1982 | -2 | c.*12 others(13): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 1298 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |