Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNG2_chr18_79792938_79905100	79831345	GACAGAGC others(241): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGCGTGCCCTGCGTACAGAGCCTTCGTCAGGAGCGTGCCCTGCGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	312	0.0032	-248	c.-11 others(21): Show c.-114-25014_-114-24767del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LYPD8_chr1_248734415_248760759	248747772	GCCCGCAC others(241): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(50): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG02040.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG03486.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0167 a0001c0001t0001g0179 others(35): Show a0001c0001t0001g0010 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0092 a0004c0004t0002g0044	53	374	0.1417	-248	c.337 others(15): Show c.337+269_337+516del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747896	CCCCGCAC others(241): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	374	0.0027	-248	c.337 others(15): Show c.337+145_337+392del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	TCACTGCT others(241): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCC CTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGC TCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTG GAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCT GCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(54): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG03239.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18948.hp2 NA18952.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA19009.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0209 others(54): Show a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0209 a0001c0001t0001g0256 a0001c0003t0001g0036 a0001c0004t0001g0205 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044	57	264	0.2159	-248	c.199 others(21): Show c.1998+36557_1998+36804del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MLPH_chr2_237482251_237560322	237544523	GGGGGGGA others(241): Show GGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACAT TGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTC AGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGC ACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02040.hp2 HG02300.hp1 HG00140.hp1 HG02040.hp2 HG02300.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0020 a0001c0001 a0017c0020	a0001c0001t0001 a0017c0020t0002 a0017c0020t0009 a0001c0001t0001 a0017c0020t0002 a0017c0020t0009	a0001c0001t0001g0183 a0017c0020t0002g0173 a0017c0020t0009g0172 a0001c0001t0001g0183 a0017c0020t0002g0173 a0017c0020t0009g0172	3	286	0.0105	-248	c.153 others(19): Show c.1539+1869_1540-1831del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MXRA8_chr1_1347691_1363555	1350675	CTGGACGG others(241): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	338	0.0030	-248	c.26 others(11): Show c.2681_*2928del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2015		chr1	TogoVar
NINJ2_chr12_559296_668445	590716	AGGGAGGC others(241): Show AGGGAGGCTGATGCTTACAGCTGATCAGAACCCAGGACACTAGCACTTAC TATCAAGGTTATAGGGAGGCTGATGCTTACAGCTGATCAGAACCCAGGAC ACTAGCACTTACTATCAAGGTTACTGGGAGGCTGATGCTTACAGCTGATC AGAACCCAGGACACTAGCACTTACTATCAAGGTTATAGGGAGGCTGATGC TTACAGCTGATCAGAACCCAGGACACTAGCACTTACTATCAAGGTTACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0005 a0001c0001 a0001c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0371 a0001c0001t0001g0389 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0401 a0001c0001t0002g0057 a0001c0001t0002g0120 a0001c0001t0002g0244 a0001c0001t0002g0252 a0001c0001t0002g0264 a0001c0007t0002g0178 a0005c0005t0001g0199	91	404	0.2253	-248	c.34- others(17): Show c.34-24786_34-24539del	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NKD2_chr5_1003802_1043943	1025990	TAGTGGGC others(241): Show TAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCG TCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCC ATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCTGCTA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02602.hp1 HG04115.hp1 others(4): Show HG02523.hp2 HG02602.hp1 HG04115.hp1 NA18962.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0256 a0001c0001t0007g0257 others(3): Show a0001c0001t0007g0027 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0260	7	319	0.0219	-248	c.142 others(17): Show c.142-6161_142-5914del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
OR2T11_chr1_248618557_248640091	248637533	GATCACAG others(241): Show GATCACAGGTTAACAATAGAGACAGGCAGGACTCAATCACGTGTTAGCAA TACAGACAGGCAGGACCCATGATCACACGTTAGCAATACAGACAGGCAGG ACCCATGATCACACGTTAGCAATACAGACAGGCAGGACTCATGGTCACAC GTTAGCAATACAGACAGGCAGGACTCATGGTCACACATTAGCAATATAGA CAGGAAGGACTCACGATCACACGTTAGCAATACAGACACAGAAGGACTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(294): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0013 a0002c0002 others(10): Show a0001c0001 a0001c0013 a0002c0002 a0003c0003 a0004c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0014 a0010c0012 a0011c0011 a0012c0010 a0013c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0013t0031 a0002c0002t0002 a0002c0002t0013 a0003c0003t0004 a0004c0005t0006 a0004c0005t0014 a0004c0005t0028 a0006c0006t0019 a0006c0006t0020 a0007c0007t0001 a0008c0008t0001 a0009c0014t0032 a0010c0012t0001 a0011c0011t0016 a0012c0010t0001 a0013c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0003g0005 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0005g0007 a0001c0001t0005g0073 a0001c0001t0008g0014 a0001c0001t0008g0090 a0001c0001t0015g0061 a0001c0001t0021g0029 a0001c0001t0023g0047 a0001c0001t0024g0033 a0001c0001t0025g0048 a0001c0001t0026g0049 a0001c0001t0027g0034 a0001c0001t0029g0062 a0001c0001t0030g0050 a0001c0001t0033g0093 a0001c0013t0031g0088 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0013g0025 a0003c0003t0004g0004 a0003c0003t0004g0037 a0004c0005t0006g0015 a0004c0005t0006g0016 a0004c0005t0014g0026 a0004c0005t0028g0039 a0006c0006t0019g0071 a0006c0006t0020g0070 a0007c0007t0001g0018 a0008c0008t0001g0019 a0009c0014t0032g0092 a0010c0012t0001g0064 a0011c0011t0016g0072 a0012c0010t0001g0046 a0013c0009t0001g0056	297	314	0.9459	-248	c.-28 others(11): Show c.-2888_-2641del	OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding		2443		chr1	TogoVar
OR2T35_chr1_248631356_248650278	248637533	GATCACAG others(241): Show GATCACAGGTTAACAATAGAGACAGGCAGGACTCAATCACGTGTTAGCAA TACAGACAGGCAGGACCCATGATCACACGTTAGCAATACAGACAGGCAGG ACCCATGATCACACGTTAGCAATACAGACAGGCAGGACTCATGGTCACAC GTTAGCAATACAGACAGGCAGGACTCATGGTCACACATTAGCAATATAGA CAGGAAGGACTCACGATCACACGTTAGCAATACAGACACAGAAGGACTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(289): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0015 a0002c0007 a0002c0010 a0007c0019 a0008c0018 a0009c0017 a0010c0016 a0011c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0005t0001 a0001c0006t0011 a0001c0006t0022 a0001c0009t0001 a0001c0013t0002 a0001c0014t0003 a0001c0015t0001 a0002c0007t0007 a0002c0010t0012 a0007c0019t0001 a0008c0018t0002 a0009c0017t0005 a0010c0016t0001 a0011c0020t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0005g0029 a0001c0001t0005g0084 a0001c0001t0005g0105 a0001c0001t0006g0018 a0001c0001t0009g0021 a0001c0001t0014g0091 a0001c0001t0014g0092 a0001c0001t0017g0062 a0001c0001t0018g0043 a0001c0001t0019g0075 a0001c0001t0021g0099 a0001c0001t0024g0104 a0001c0001t0025g0089 a0001c0001t0026g0093 a0001c0002t0001g0009 a0001c0002t0001g0031 a0001c0005t0001g0015 a0001c0006t0011g0086 a0001c0006t0011g0088 a0001c0006t0022g0087 a0001c0009t0001g0024 a0001c0013t0002g0094 a0001c0014t0003g0044 a0001c0015t0001g0042 a0002c0007t0007g0030 a0002c0007t0007g0033 a0002c0007t0007g0074 a0002c0010t0012g0100 a0002c0010t0012g0101 a0007c0019t0001g0046 a0008c0018t0002g0095 a0009c0017t0005g0106 a0010c0016t0001g0045 a0011c0020t0005g0107	292	309	0.9450	-248	c.50 others(9): Show c.506_*753del	OR2T35	ENSG00000177151.5	transcript	ENST00000641268.1	protein_coding	2/2	506		chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510609	TACATATG others(241): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG01243.hp2 others(15): Show HG00621.hp1 HG00642.hp2 HG01243.hp2 HG02071.hp2 HG02602.hp1 HG02602.hp2 HG03942.hp1 NA18939.hp1 NA18950.hp1 NA18960.hp1 NA18981.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0016 a0002c0008 a0001c0002 a0001c0016 a0002c0008	a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 others(3): Show a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 a0001c0002t0053 a0001c0016t0001 a0002c0008t0009	a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 others(15): Show a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0099 a0001c0002t0001g0129 a0001c0002t0001g0156 a0001c0002t0001g0175 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0036g0119 a0001c0002t0039g0198 a0001c0002t0053g0226 a0001c0016t0001g0041 a0002c0008t0009g0084	18	244	0.0738	-248	c.894 others(17): Show c.894-7039_894-6792del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510657	CATACATA others(241): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0074 a0001c0009t0019g0074	1	244	0.0041	-248	c.894 others(17): Show c.894-7087_894-6840del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300648	TCTTTTCT others(241): Show TCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCT CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTT CTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19000.hp1 NA18969.hp2 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0273 a0001c0003t0003g0274	2	284	0.0070	-248	c.-27 others(19): Show c.-277+1596_-277+1843del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300652	TTCTTTCT others(241): Show TTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATT CTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTT CCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19081.hp2 NA19003.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0278 a0001c0003t0003g0279 a0001c0001t0001g0278 a0001c0003t0003g0279	2	284	0.0070	-248	c.-27 others(19): Show c.-277+1597_-277+1844del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PHACTR1_chr6_12711767_13292837	13231169	GAGGAGGA others(241): Show GAGGAGGAGGGAGGGAGGGAGGAAGGAAAGAAGGAAGGAAGGAAGGGAAA AGAAAGAAGGAAAGAGAGAAAGAAAGAAGGAAAGAGAAAGAAAGAAGGAA AGAGAAAGAAGGAAAGAGAAAGAGAGAGCGAAAGAGAAGGAGGGAGGGAG GAAGGAAAGAAGGAAGGAAGGAAGGGGAAAGAAAGAAGGAAAGAGAGAAA GAAAGAAGGAAAGAGAAAGAAAGAAGGAAAGAGAAAGAAGGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0046 a0001c0003t0001g0054 a0001c0001t0001g0046 a0001c0003t0001g0054	2	108	0.0185	-248	c.139 others(18): Show c.1391+979_1391+1226del	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50433301	TGCTGGGC others(241): Show TGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGC TGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCC CTGGAGGTGAACCTGGAGGAGGGCTGGGGGTGCGGACGCTGGGCAGGGGC CGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCGCGGAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19060.hp1 HG01993.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0006g0065 a0001c0003t0004g0019 a0001c0001t0006g0065 a0001c0003t0004g0019	2	340	0.0059	-248	c.140 others(18): Show c.1400+992_1400+1239del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433363	CGCTGGGC others(241): Show CGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGC TGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAAC CTGGAGGAGGGCTGGGGGTGCGGACGCTGGGCAGGGGCCGGGCATTTGCT CTGGAGGTGAACCTGGAGGAGGGCTGGGGGCGCGGACGCTGGGCAGGGGC CGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp2 HG03453.hp2 others(2): Show HG00597.hp2 HG02109.hp2 HG03453.hp2 NA19070.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0008 a0001c0001t0007 a0001c0003t0008	a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0003t0008g0293 others(2): Show a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305	5	340	0.0147	-248	c.140 others(19): Show c.1400+1084_1401-1306del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433502	GGGCATTT others(241): Show GGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCGCGGACGC TGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGG GGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTG GAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTG GAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0003 a0007c0013t0003	a0007c0013t0003g0034 a0007c0013t0003g0034	1	340	0.0029	-248	c.140 others(19): Show c.1400+1183_1401-1207del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434008	TCTGGAGG others(241): Show TCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGG CCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGAT GCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCC GGGGGCGCAGACGCTGGGCAGGGGCTGGGCATTTGCTCTGGAGGTGAACC TGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18942.hp2 NA19064.hp1 others(1): Show HG00423.hp2 NA18942.hp2 NA19064.hp1 NA19090.hp1	a0004 a0008 a0004 a0008	a0004c0009 a0008c0012 a0004c0009 a0008c0012	a0004c0009t0030 a0008c0012t0020 a0004c0009t0030 a0008c0012t0020	a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 others(1): Show a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079	4	340	0.0118	-248	c.140 others(17): Show c.1401-926_1401-679del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1C_chr5_180095795_180214211	180113379	ACCGGGGA others(241): Show ACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGA TGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGTGACCGG GGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGACGGAG GGACCGGGGATGGACGGAGGGATCCGGGATGGACGGAGGGACCGGGGATG GACGGAGGGATCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0355 a0001c0002t0008g0355	1	370	0.0027	-248	c.117 others(18): Show c.1179+819_1179+1066del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
REV3L_chr6_111294033_111488218	111304026	TTTTAAAA others(241): Show TTTTAAAACATTCTAGAAACACTTAAGAAGTATATTTTTTGGTACTGGGT TACAGAGTTTGATATATAATCACAAGGTCTGACTTATAATGTTTACAATT TCCATAATTTCACTTATTTCTGATCACTTGATTGGTCTTGGATTGAGAAT GATGTAAAATCTCCTGTTTGGATGTGTTTCTAATTCTCATTACATCTCTA GTAATTTCTGCTTCATTAAAAATTTCTACAAATTAGTGCATGGGAGACA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp1 HG03471.hp2 NA18522.hp1	a0002 a0015 a0002 a0015	a0002c0025 a0015c0021 a0002c0025 a0015c0021	a0002c0025t0001 a0015c0021t0001 a0002c0025t0001 a0015c0021t0001	a0002c0025t0001g0109 a0015c0021t0001g0284 a0002c0025t0001g0109 a0015c0021t0001g0284	2	288	0.0069	-248	c.925 others(19): Show c.9252+3087_9252+3334del	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RGPD3_chr2_106398406_106473413	106466564	GCGCCTCA others(241): Show GCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACG CCTGAGCCATCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGC CCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGT CGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAG CCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCGGGTCGAGGCCGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18949.hp2 NA18986.hp1 others(1): Show HG04184.hp1 NA18949.hp2 NA18986.hp1 NA19070.hp1	a0001 a0002 a0035 a0001 a0002 a0035	a0001c0001 a0002c0002 a0035c0038 a0001c0001 a0002c0002 a0035c0038	a0001c0001t0020 a0001c0001t0031 a0002c0002t0001 others(1): Show a0001c0001t0020 a0001c0001t0031 a0002c0002t0001 a0035c0038t0031	a0001c0001t0020g0277 a0001c0001t0031g0268 a0002c0002t0001g0275 others(1): Show a0001c0001t0020g0277 a0001c0001t0031g0268 a0002c0002t0001g0275 a0035c0038t0031g0276	4	382	0.0105	-248	c.72+ others(15): Show c.72+1405_72+1652del	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RIPK1_chr6_3063494_3120187	3090764	ACCTACCT others(241): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	340	0.0029	-248	c.915 others(17): Show c.915+1135_915+1382del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(241): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0209 a0001c0001t0012g0209	1	340	0.0029	-248	c.915 others(17): Show c.915+1169_915+1416del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091012	GCCTACCT others(241): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	340	0.0029	-248	c.915 others(17): Show c.915+1445_915+1692del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(241): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02055.hp1 others(23): Show HG00597.hp1 HG00673.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp1 HG02698.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0178 a0001c0001t0001g0269 a0001c0001t0001g0316 others(23): Show a0001c0001t0001g0178 a0001c0001t0001g0269 a0001c0001t0001g0316 a0001c0001t0002g0225 a0001c0002t0001g0072 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0051 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0083 a0001c0002t0002g0110 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0224 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0272 a0001c0002t0002g0291	26	340	0.0765	-248	c.915 others(17): Show c.915+2034_915+2281del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091691	CGCGCCTA others(241): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	340	0.0029	-248	c.915 others(17): Show c.915+2065_915+2312del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091784	CGCGCCTA others(241): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	340	0.0029	-248	c.915 others(17): Show c.915+2189_915+2436del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092209	TAACCGCA others(241): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0278 a0001c0001t0010g0278	1	340	0.0029	-248	c.915 others(17): Show c.915+2561_915+2808del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092457	GAACCGCA others(241): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG00140.hp1 HG01192.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0027 a0002c0005t0001 a0001c0001t0027 a0002c0005t0001	a0001c0001t0027g0169 a0002c0005t0001g0005 a0001c0001t0027g0169 a0002c0005t0001g0005	2	340	0.0059	-248	c.915 others(17): Show c.915+2809_915+3056del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(241): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp1 HG02738.hp1 others(1): Show HG02027.hp1 HG02071.hp1 HG02738.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0002t0002g0110	4	340	0.0118	-248	c.915 others(17): Show c.915+2995_915+3242del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093170	TAACCGCA others(241): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGC AGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0111 a0001c0001t0010g0111	1	340	0.0029	-248	c.915 others(17): Show c.915+3522_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093179	CGCGCCTA others(241): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02027.hp1 HG02055.hp2 others(5): Show HG01192.hp1 HG02027.hp1 HG02055.hp2 HG02630.hp2 HG02723.hp1 HG03471.hp2 NA18906.hp2 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0007 a0002c0005t0001	a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0007g0321 others(5): Show a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0007g0321 a0001c0001t0009g0120 a0001c0002t0001g0096 a0001c0002t0001g0196 a0001c0002t0007g0194 a0002c0005t0001g0005	8	340	0.0235	-248	c.915 others(17): Show c.915+3573_915+3820del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093864	GCCTACCT others(241): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAGTAACTGC AGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCA CCTAGTAACTGCAGCGCGCCTACCTCCTGCACCTAGTAACTGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	340	0.0029	-248	c.915 others(17): Show c.915+4230_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84191687	TATATATA others(241): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03486.hp2 NA19043.hp1 HG02630.hp2 HG03486.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0096 a0002c0002t0031 a0002c0002t0096	a0002c0002t0031g0157 a0002c0002t0031g0158 a0002c0002t0096g0159 a0002c0002t0031g0157 a0002c0002t0031g0158 a0002c0002t0096g0159	3	272	0.0110	-248	c.-40 others(11): Show c.-4036_-3789del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3489		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191715	TATATATA others(241): Show TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19078.hp1 NA19062.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0032 a0002c0002t0022 a0002c0002t0032	a0002c0002t0022g0023 a0002c0002t0032g0012 a0002c0002t0022g0023 a0002c0002t0032g0012	2	272	0.0074	-248	c.-40 others(11): Show c.-4064_-3817del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3517		chrX	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(241): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATA TATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGT GTATATACTATATATATGGTATATATATGGTGTATATACTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0280 a0001c0001t0003g0282	2	314	0.0064	-248	c.339 others(19): Show c.3393+2682_3393+2929del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SGCZ_chr8_14079845_15243431	14992342	CTACTCCC others(241): Show CTACTCCCAAATCTACTCCCAAAACCAATGTTACCCTTGCTATTTACCTC TCACCCTCAACTATTCAACTCCAAAACTAATGTTGGCATTGATATTTATC CCTCACCCATCCTCCTCATCCAATCTACTCCCAAATCTACTCCCAAAACC AGTGTTACCCTTGCTATTTACCTCTCACCCTCAACTATTCAACTCCAAAA CTAATGTTGGCATTGATATTTACCCCTCACCCATCCTCCTCATCCAATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0044 a0001c0001t0075g0044	1	102	0.0098	-248	c.39+ others(19): Show c.39+244995_39+245242del	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM2_chr17_2332501_2386054	2356678	TGGGGGAA others(241): Show TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTG GGGAAGGGATCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 NA18957.hp2 others(4): Show HG00733.hp1 HG01106.hp2 NA18957.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0171 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0329 a0001c0001t0001g0394	7	422	0.0166	-248	c.134 others(17): Show c.134-4954_134-4707del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401896	CCCCCGGC others(241): Show CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCC CCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGG ACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	242	0.0041	-248	c.37 others(11): Show c.3752_*3999del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3819		chr11	TogoVar
SMOC2_chr6_168436184_168672992	168571823	TGGGACCA others(241): Show TGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGC ATCCCCGGGTGCGGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCA CTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTG CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG01243.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0001t0001 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 others(1): Show a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0004t0005g0051	4	180	0.0222	-248	c.637 others(19): Show c.637+22682_637+22929del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572904	CGCGATGT others(241): Show CGCGATGTTCACTTCCTCCCCGCATCCCCTGGTGCCGGGACCAGGGCTGC GTGCTCCTTGGACGCGATGCTCATTTCCTCCCCACATCCCCGGGTGCTGG GACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCATTTCCTCCCCGCATC CCCGGGTGCGGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTT CCTTCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00741.hp1 others(31): Show HG00099.hp2 HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG03490.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 NA18612.hp1 NA18941.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA19065.hp2 NA19079.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0008 a0001c0002t0013 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0103 others(31): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0009g0161 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0008g0047 a0001c0002t0013g0062 a0004c0009t0003g0088	34	180	0.1889	-248	c.637 others(19): Show c.637+23730_637+23977del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251417	AGACACTG others(241): Show AGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTT AGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACT GCGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGT GCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCG GCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG02165.hp2 others(1): Show HG00597.hp2 HG02071.hp1 HG02165.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0002g0066 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0002g0066 a0001c0001t0002g0085	4	150	0.0267	-248	c.531 others(19): Show c.531+75536_531+75783del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TMPRSS2_chr21_41459305_41513158	41474775	AGTGAGGG others(241): Show AGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAG GGGTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGA GGGGGTGGGTGAGGGGTGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGATGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG TGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGGTGAGGGGTAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0153 a0001c0002t0014g0153	1	382	0.0026	-248	c.728 others(17): Show c.728-1527_728-1280del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TSPAN9_chr12_3072379_3291559	3096439	TCCTTCTG others(241): Show TCCTTCTGAAGAGCAGAGGCCTTGGTTTTCCATTCACTGGTGCTTTCCCT GTTTTCTCATTGCCTGGCACCTGGTGGACACAGAAATATTTTTTGAATGA ATGAATGAATGAATATTGCACTTGTGATCTAAGAGATGTGGCCCTAATCT CATCCATTTCCCCAGGACACTTAGACACTTGCTTGCTTTAAAACCACCCA TCTTCATATTGCAGGGGTTTCAAACATTTCAGGAGAGGCAGTGAGGATC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0228 a0001c0001t0083g0228	1	288	0.0035	-248	c.-18 others(19): Show c.-18+12721_-18+12968del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
ANKRD33B_chr5_10559070_10662816	10639720	GCGGGTGA others(240): Show GCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGC GCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTG ACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGA TGTTAGGCGGTGACGTGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGG GTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0038 a0001c0033t0038	a0001c0033t0038g0045 a0001c0033t0038g0045	1	324	0.0031	-247	c.637 others(17): Show c.637+1553_637+1799del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3			chr5	TogoVar
APCDD1_chr18_10449635_10494949	10462407	TTTCCTTC others(240): Show TTTCCTTCCTTCCTTCCTTTCCCCCTTGCTCCCTCTCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTG TGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG01106.hp2 HG01167.hp1 HG01891.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0016 a0002c0003 a0002c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0022 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0004t0006 a0001c0004t0024 a0001c0004t0040 a0001c0007t0042 a0001c0008t0009 a0001c0013t0006 a0001c0016t0033 a0002c0003t0001 a0002c0003t0003 a0002c0005t0002 a0003c0006t0012	a0001c0001t0002g0089 a0001c0001t0002g0194 a0001c0001t0002g0209 others(78): Show a0001c0001t0002g0089 a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0002g0227 a0001c0001t0002g0294 a0001c0001t0004g0203 a0001c0001t0004g0210 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0368 a0001c0001t0007g0022 a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0001t0008g0196 a0001c0001t0018g0265 a0001c0001t0018g0266 a0001c0001t0020g0054 a0001c0001t0020g0261 a0001c0001t0021g0185 a0001c0001t0023g0195 a0001c0001t0030g0371 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0186 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0003g0245 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0256 a0001c0002t0005g0002 a0001c0002t0005g0010 a0001c0002t0005g0181 a0001c0002t0005g0295 a0001c0002t0013g0190 a0001c0002t0013g0225 a0001c0002t0022g0212 a0001c0002t0034g0257 a0001c0002t0035g0288 a0001c0002t0037g0201 a0001c0004t0006g0198 a0001c0004t0006g0234 a0001c0004t0006g0250 a0001c0004t0006g0324 a0001c0004t0006g0329 a0001c0004t0024g0191 a0001c0004t0024g0193 a0001c0004t0040g0260 a0001c0007t0042g0067 a0001c0008t0009g0226 a0001c0013t0006g0192 a0001c0016t0033g0231 a0002c0003t0001g0207 a0002c0003t0003g0244 a0002c0003t0003g0259 a0002c0003t0003g0290 a0002c0003t0003g0330 a0002c0005t0002g0208 a0003c0006t0012g0264	88	422	0.2085	-247	c.59- others(15): Show c.59-6043_59-5797del	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARPC5_chr1_183615846_183640783	183622207	TAGTTGGT others(240): Show TAGTTGGTTGTCAAAAGAGGAACTAGGGTGGAATGGAAAATTACCACAGT ACATATTTCTTACCTTTTGAATATTGAACAATATGAACAAATTATTTGAA AACGAATAAAAACTAAAATGAATAAAATACAGAACCATTGGCTAATGAAT ACACTGACCTTTAACTTAGCAAATTGAAGAAAATCTTAGTTGCCCTGGCA TCTTGATTCAATTTTTGGAGAAACAAAAGGAAGTATGATGTTATTCAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0115 a0001c0001t0044g0115	1	364	0.0028	-247	c.50 others(11): Show c.5078_*5324del	ARPC5	ENSG00000162704.16	transcript	ENST00000359856.11	protein_coding	4/4	5078		chr1	TogoVar
ASMT_chrX_1610059_1648081	1638902	GTGTCCCA others(240): Show GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-247	c.910 others(17): Show c.910+2351_910+2597del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639466	ATGATGGG others(240): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-247	c.910 others(17): Show c.910+2938_911-3059del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)