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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0032a0001c0049others(3): Show | a0001c0002t0003a0001c0032t0001a0001c0049t0002others(3): Show | a0001c0002t0003g0279 a0001c0032t0001g0248 a0001c0049t0002g0010 others(4): Show |
7 | 120 | 0.0583 | 22 | c.229 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7733475 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(4): Show |
a0001a0002a0026 | a0001c0046a0001c0049a0001c0050others(3): Show | a0001c0046t0004a0001c0049t0002a0001c0050t0003others(3): Show | a0001c0046t0004g0230 a0001c0049t0002g0010 a0001c0050t0003g0306 others(4): Show |
7 | 301 | 0.0233 | 22 | c.628 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 5/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(15): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0097 | 1 | 228 | 0.0044 | 22 | c.168 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7752160 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01175.hp2 others(14): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0007a0003c0004others(11): Show | a0001c0001t0002a0002c0007t0002a0003c0004t0001others(11): Show | a0001c0001t0002g0044 a0001c0001t0002g0048 a0002c0007t0002g0003 others(14): Show |
17 | 71 | 0.2394 | 22 | c.190 others(41): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0145 | 1 | 106 | 0.0094 | 22 | c.755 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0189 | 1 | 57 | 0.0175 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02132.hp2 others(2): Show |
a0001a0006 | a0001c0002a0001c0093a0006c0016 | a0001c0002t0001a0001c0093t0001a0006c0016t0001 | a0001c0002t0001g0166 a0001c0002t0001g0197 a0001c0093t0001g0083 others(2): Show |
5 | 61 | 0.0820 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04204.hp1 |
a0004a0042 | a0004c0027a0042c0044 | a0004c0027t0001a0042c0044t0001 | a0004c0027t0001g0187 a0042c0044t0001g0109 |
2 | 117 | 0.0171 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0037 | a0037c0077 | a0037c0077t0001 | a0037c0077t0001g0229 | 1 | 116 | 0.0086 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0128 | 1 | 88 | 0.0114 | 22 | c.450 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0027 | a0027c0041 | a0027c0041t0001 | a0027c0041t0001g0080 | 1 | 35 | 0.0286 | 22 | c.324 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13691167 | C | CTTTTAAA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0022 | a0022c0200 | a0022c0200t0016 | a0022c0200t0016g0218 | 1 | 250 | 0.0040 | 22 | c.*81 others(31): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 79/79 | 816 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713440 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0086 | a0086c0096 | a0086c0096t0005 | a0086c0096t0005g0007 | 1 | 248 | 0.0040 | 22 | c.131 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0015 | a0015c0002 | a0015c0002t0019 | a0015c0002t0019g0228 | 1 | 131 | 0.0076 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0020 | a0020c0018 | a0020c0018t0003 | a0020c0018t0003g0246 | 1 | 131 | 0.0076 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778598 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG02523.hp1 others(3): Show |
a0005a0017a0023others(3): Show | a0005c0026a0017c0020a0023c0008others(3): Show | a0005c0026t0002a0017c0020t0001a0023c0008t0002others(3): Show | a0005c0026t0002g0036 a0017c0020t0001g0109 a0023c0008t0002g0215 others(3): Show |
6 | 220 | 0.0273 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02622.hp1 NA18612.hp1 others(1): Show |
a0017a0040a0124others(1): Show | a0017c0020a0040c0153a0124c0185others(1): Show | a0017c0020t0001a0040c0153t0001a0124c0185t0001others(1): Show | a0017c0020t0001g0064 a0040c0153t0001g0205 a0124c0185t0001g0129 others(1): Show |
4 | 156 | 0.0256 | 22 | c.527 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0023 | a0023c0008 | a0023c0008t0002 | a0023c0008t0002g0216 | 1 | 161 | 0.0062 | 22 | c.459 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(7): Show |
a0001a0009a0042 | a0001c0001a0001c0040a0001c0044others(2): Show | a0001c0001t0002a0001c0040t0002a0001c0044t0002others(2): Show | a0001c0001t0002g0173 a0001c0001t0002g0212 a0001c0001t0002g0217 others(7): Show |
10 | 74 | 0.1351 | 22 | c.114 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01891.hp2 others(8): Show |
a0001a0008a0011others(1): Show | a0001c0001a0008c0010a0008c0021others(2): Show | a0001c0001t0002a0008c0010t0005a0008c0021t0001others(2): Show | a0001c0001t0002g0160 a0001c0001t0002g0172 a0001c0001t0002g0181 others(8): Show |
11 | 22 | 0.5000 | 22 | c.183 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195990814 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | 254 | 0.0079 | 22 | c.135 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715925 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0015 | 1 | 221 | 0.0045 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715958 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0024 | a0024c0027 | a0024c0027t0001 | a0024c0027t0001g0259 | 1 | 191 | 0.0052 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0030 | a0030c0137 | a0030c0137t0001 | a0030c0137t0001g0218 | 1 | 101 | 0.0099 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATTTTT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0035 | 1 | 101 | 0.0099 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0054 | a0054c0076 | a0054c0076t0001 | a0054c0076t0001g0265 | 1 | 101 | 0.0099 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38766135 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG02683.hp2 others(1): Show |
a0004a0037 | a0004c0002a0004c0017a0037c0049 | a0004c0002t0001a0004c0017t0001a0037c0049t0001 | a0004c0002t0001g0156 a0004c0017t0001g0059 a0004c0017t0001g0116 others(1): Show |
4 | 263 | 0.0152 | 22 | c.161 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38766139 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
a0005a0007a0008others(16): Show | a0005c0005a0005c0023a0005c0029others(30): Show | a0005c0005t0001a0005c0023t0001a0005c0029t0001others(32): Show | a0005c0005t0001g0022 a0005c0005t0001g0048 a0005c0005t0001g0068 others(56): Show |
59 | 228 | 0.2588 | 22 | c.161 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38932183 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0008 | a0008c0052 | a0008c0052t0001 | a0008c0052t0001g0164 | 1 | 62 | 0.0161 | 22 | c.114 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38932216 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0066 | a0066c0110 | a0066c0110t0001 | a0066c0110t0001g0246 | 1 | 252 | 0.0040 | 22 | c.114 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11654355 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0129 | a0001c0129t0001 | a0001c0129t0001g0112 | 1 | 66 | 0.0152 | 22 | c.259 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG04204.hp2 |
a0004a0005a0060 | a0004c0042a0005c0131a0060c0116 | a0004c0042t0001a0005c0131t0001a0060c0116t0001 | a0004c0042t0001g0040 a0005c0131t0001g0177 a0060c0116t0001g0147 |
3 | 7 | 0.4286 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG02572.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0129a0002c0015others(3): Show | a0001c0003t0001a0001c0129t0001a0002c0015t0001others(3): Show | a0001c0003t0001g0087 a0001c0129t0001g0112 a0002c0015t0001g0149 others(3): Show |
6 | 10 | 0.6000 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG06807.hp2 others(1): Show |
a0001a0038a0043others(1): Show | a0001c0117a0038c0126a0043c0092others(1): Show | a0001c0117t0001a0038c0126t0001a0043c0092t0001others(1): Show | a0001c0117t0001g0027 a0038c0126t0001g0067 a0043c0092t0001g0163 others(1): Show |
4 | 8 | 0.5000 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843890 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0014 | a0014c0149 | a0014c0149t0001 | a0014c0149t0001g0011 | 1 | 158 | 0.0063 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843890 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0055 | a0005c0055t0001 | a0005c0055t0001g0102 | 1 | 158 | 0.0063 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0046 | a0046c0087 | a0046c0087t0001 | a0046c0087t0001g0120 | 1 | 26 | 0.0385 | 22 | c.118 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11930765 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 |
a0011a0046 | a0011c0132a0046c0087 | a0011c0132t0001a0046c0087t0001 | a0011c0132t0001g0058 a0046c0087t0001g0120 |
2 | 9 | 0.2222 | 22 | c.121 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 63/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03130.hp2 |
a0001a0016 | a0001c0014a0016c0011 | a0001c0014t0001a0016c0011t0001 | a0001c0014t0001g0096 a0016c0011t0001g0121 |
2 | 62 | 0.0323 | 22 | c.128 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GAGATATA others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 23 | 0.0435 | 22 | c.682 others(37): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18906.hp1 NA18941.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0111 a0003c0003t0002g0052 a0003c0003t0002g0057 |
3 | 25 | 0.1200 | 22 | c.682 others(37): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66909285 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0182 |
2 | 32 | 0.0625 | 22 | c.171 others(39): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00673.hp1 HG00733.hp1 others(78): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 others(78): Show |
81 | 82 | 0.9878 | 22 | c.189 others(35): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 2 | 0.5000 | 22 | c.189 others(35): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | NA18965.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0127 |
2 | 48 | 0.0417 | 22 | c.124 others(41): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25173934 | A | AATCATAT others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01167.hp1 others(57): Show |
a0002a0003a0005others(2): Show | a0002c0002a0003c0003a0005c0004others(2): Show | a0002c0002t0001a0003c0003t0001a0005c0004t0001others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0118 a0002c0002t0001g0235 others(56): Show |
60 | 88 | 0.6818 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25173934 | A | AATCATAT others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01346.hp2 HG02083.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0190 a0001c0001t0001g0229 a0001c0001t0001g0231 others(14): Show |
18 | 46 | 0.3913 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25173934 | A | AATCATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(219): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 others(218): Show |
222 | 250 | 0.8880 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174330 | T | TCATATAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01243.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(1): Show |
4 | 334 | 0.0120 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174407 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(57): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0003a0007c0012t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(57): Show |
60 | 115 | 0.5217 | 22 | c.22- others(39): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar |