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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
STON2_chr14_81255652_81405324	81308824	ATGTGTGT others(87): Show ATGTGTGTGTGTGTATATATATATATATACACATACATACATACATACAT ACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAGGCTGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02572.hp2 HG02717.hp2 others(7): Show HG00597.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG03041.hp2 HG03540.hp1 NA18522.hp1 NA18980.hp1 NA18994.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0001 a0002c0002t0007 others(4): Show a0001c0001t0030 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0016 a0002c0002t0045 a0002c0002t0058	a0001c0001t0030g0183 a0002c0002t0001g0227 a0002c0002t0001g0229 others(7): Show a0001c0001t0030g0183 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0007g0170 a0002c0002t0007g0179 a0002c0002t0007g0181 a0002c0002t0013g0216 a0002c0002t0016g0142 a0002c0002t0045g0171 a0002c0002t0058g0168	10	264	0.0379	-94	c.742 others(113): Show c.742+15099_742+15192delGCAGCCTTTCTGTCTCAAATCCTGCC ACAACCCTTTAGTGTATGTATGTATGTATGTATGTATGTGTATATATATA TATATACACACACACACA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
TBC1D22A_chr22_46757650_47180693	46941114	CACACACA others(87): Show CACACACACACACACACACACACACACACACACAGTCCACCCTTGAACAG CATGGGGACTGGGACACTAGAATATATATATATGTATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0090 a0001c0001t0010g0025 a0001c0001t0001g0090 a0001c0001t0010g0025	2	112	0.0179	-94	c.101 others(115): Show c.1015+28956_1015+29049delCACAGTCCACCCTTGAACAGCATG GGGACTGGGACACTAGAATATATATATATGTATATATGTATACACACACA CACACACACACACACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47168193	AGTGGTGG others(87): Show AGTGGTGGAGATGCTGGGGAGAACTCACTGCCCAGCAAAGTGCTGTGGGC TCGGTTTTGGGGATATAGGGACACACAGACCTGTTGAAGTAGTAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 NA19030.hp2 HG03486.hp1 HG03516.hp1 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0011 a0005c0006t0021 a0001c0001t0002 a0001c0001t0011 a0005c0006t0021	a0001c0001t0002g0015 a0001c0001t0011g0106 a0005c0006t0021g0019 a0001c0001t0002g0015 a0001c0001t0011g0106 a0005c0006t0021g0019	3	112	0.0268	-94	c.142 others(113): Show c.1426-5175_1426-5082delAAAGTGCTGTGGGCTCGGTTTTGGGG ATATAGGGACACACAGACCTGTTGAAGTAGTAGGTGGTGGAGATGCTGGG GAGAACTCACTGCCCAGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D30_chr12_64819647_64886033	64844753	TTAAGTGA others(87): Show TTAAGTGAGAACATTCAAAGTTTGTCTTTCCATGCCTGGCTTATTTCACT TAATATAATGACCTCCATTTCCATCCACAAATAAGCTCCCACAAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	298	0.0034	-94	c.103 others(113): Show c.1038+1299_1038+1392delATGCCTGGCTTATTTCACTTAATATA ATGACCTCCATTTCCATCCACAAATAAGCTCCCACAAATAAGTGAGAACA TTCAAAGTTTGTCTTTCC	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TENM1_chrX_124370903_125209312	124471246	AATAATAT others(87): Show AATAATATATATTATAATATATAGTACTATATATAATATATAGTACTATA TATTATAATATATAGTACTATATATTATAATATATAGTACTATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19030.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0005t0006 a0001c0001t0012 a0001c0005t0006	a0001c0001t0012g0095 a0001c0005t0006g0071 a0001c0001t0012g0095 a0001c0005t0006g0071	2	140	0.0143	-94	c.394 others(115): Show c.3949+10392_3949+10485delATATAGTACTATATATTATAATAT ATAGTACTATATATTATAATATATAGTACTATATATTATATATAGTACTA TATATTATAATATATATTAT	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34			chrX	TogoVar
THSD7B_chr2_136760545_137682718	136890304	CTTCTTCT others(87): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02895.hp1 HG02897.hp2 HG01358.hp2 HG02895.hp1 HG02897.hp2	a0003 a0021 a0003 a0021	a0003c0002 a0021c0039 a0003c0002 a0021c0039	a0003c0002t0001 a0021c0039t0002 a0003c0002t0001 a0021c0039t0002	a0003c0002t0001g0002 a0003c0002t0001g0003 a0021c0039t0002g0004 a0003c0002t0001g0002 a0003c0002t0001g0003 a0021c0039t0002g0004	3	98	0.0306	-94	c.139 others(111): Show c.139+7989_139+8082delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCCTCTTCCTCTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIGIT_chr3_114289028_114315288	114303505	GTATATAT others(87): Show GTATATATATATACACATATATATGTATATATATACACATATATATGTAT ATATATATACATATATATGTATATATATATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0002c0002t0022 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0106 a0001c0001t0002g0223 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0061 a0001c0001t0003g0078 a0001c0001t0003g0105 a0001c0001t0003g0184 a0001c0001t0003g0190 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0010g0059 a0001c0001t0010g0132 a0001c0001t0012g0001 a0001c0001t0014g0255 a0001c0001t0015g0014 a0001c0001t0016g0128 a0001c0001t0018g0039 a0001c0001t0019g0039 a0001c0001t0020g0139 a0001c0001t0021g0041 a0001c0001t0023g0067 a0001c0001t0027g0221 a0001c0001t0028g0001 a0002c0002t0022g0129 a0003c0004t0001g0261	302	424	0.7123	-94	c.498 others(111): Show c.498+3817_498+3910delCATATATATGTATATATATACACATATA TATGTATATATATATACATATATATGTATATATATATATACATATATATG TATATATATATATACA	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMELESS_chr12_56411363_56454426	56442095	AAAAAAAA others(87): Show AAAAAAAAGAAATGTAGTTGCAGAAATAAAATCCACAAATATAGAACAAA CAATGTAAAAGATAAGGCAGTACAAGCTCTAAATACGTGATACTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01106.hp1 others(43): Show HG00642.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01516.hp1 HG01517.hp2 HG02148.hp2 HG02273.hp2 HG02735.hp2 HG03491.hp2 HG03492.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1	a0002 a0013 a0015 a0002 a0013 a0015	a0002c0002 a0002c0020 a0013c0018 others(1): Show a0002c0002 a0002c0020 a0013c0018 a0015c0021	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(4): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0002t0013 a0002c0020t0001 a0013c0018t0001 a0015c0021t0001	a0002c0002t0001g0002 a0002c0002t0001g0023 a0002c0002t0001g0024 others(42): Show a0002c0002t0001g0002 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0119 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0016 a0002c0002t0009g0012 a0002c0002t0009g0015 a0002c0002t0013g0069 a0002c0020t0001g0056 a0013c0018t0001g0062 a0015c0021t0001g0066	46	402	0.1144	-94	c.-62 others(111): Show c.-62+7121_-62+7214delCAGTATCACGTATTTAGAGCTTGTACTG CCTTATCTTTTACATTGTTTGTTCTATATTTGTGGATTTTATTTCTGCAA CTACATTTCTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	1/28			chr12	TogoVar
TLCD4_chr1_95112355_95202607	95156366	ATGGGATT others(87): Show ATGGGATTTGTGTAGACATGGGTGATGGTTGTACATATGGATGAGTAAGA TAGGGCCAGCTGATAGGTGGAGTGAAAATTCAGACTCACCAGCCC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03239.hp1 HG02602.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0173 a0001c0001t0005g0174	2	378	0.0053	-94	c.399 others(111): Show c.399+4950_399+5043delGGATTTGTGTAGACATGGGTGATGGTTG TACATATGGATGAGTAAGATAGGGCCAGCTGATAGGTGGAGTGAAAATTC AGACTCACCAGCCCTG	TLCD4	ENSG00000152078.10	transcript	ENST00000370203.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132C_chr12_128262170_128712911	128285727	CTCTCTCT others(87): Show CTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTTTCTCTCT CTCTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03831.hp2 NA18522.hp1 others(2): Show HG03579.hp1 HG03831.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0029	a0001c0001 a0004c0007 a0006c0022 others(2): Show a0001c0001 a0004c0007 a0006c0022 a0007c0089 a0029c0075	a0001c0001t0001 a0004c0007t0002 a0006c0022t0007 others(2): Show a0001c0001t0001 a0004c0007t0002 a0006c0022t0007 a0007c0089t0005 a0029c0075t0003	a0001c0001t0001g0117 a0004c0007t0002g0071 a0006c0022t0007g0069 others(2): Show a0001c0001t0001g0117 a0004c0007t0002g0071 a0006c0022t0007g0069 a0007c0089t0005g0068 a0029c0075t0003g0072	5	170	0.0294	-94	c.85+ others(111): Show c.85+18293_85+18386delTCTCTCTCTCCCCATCTCTATCCCTCTC TCCCTTTCTCTCTTTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTC TCTCTTTCTCTCTCTC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128572231	GGTCACAG others(87): Show GGTCACAGGCCCACTGTGGTCTCTGCTGGTCTCTGGTCAGGCCTGGGTCA CATGCGTACTGTGGCCTCTGCTGATCTCAGATTGGCCAGACCTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02818.hp1 others(6): Show HG02258.hp2 HG02559.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA19043.hp2	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0007 a0010 a0013	a0002c0018 a0002c0038 a0003c0084 others(6): Show a0002c0018 a0002c0038 a0003c0084 a0006c0020 a0006c0022 a0006c0025 a0007c0089 a0010c0015 a0013c0062	a0002c0018t0002 a0002c0038t0002 a0003c0084t0002 others(6): Show a0002c0018t0002 a0002c0038t0002 a0003c0084t0002 a0006c0020t0002 a0006c0022t0007 a0006c0025t0005 a0007c0089t0005 a0010c0015t0011 a0013c0062t0002	a0002c0018t0002g0136 a0002c0038t0002g0014 a0003c0084t0002g0151 others(6): Show a0002c0018t0002g0136 a0002c0038t0002g0014 a0003c0084t0002g0151 a0006c0020t0002g0143 a0006c0022t0007g0163 a0006c0025t0005g0012 a0007c0089t0005g0068 a0010c0015t0011g0007 a0013c0062t0002g0011	9	170	0.0529	-94	c.112 others(115): Show c.1121+28135_1121+28228delGGCCCACTGTGGTCTCTGCTGGTC TCTGGTCAGGCCTGGGTCACATGCGTACTGTGGCCTCTGCTGATCTCAGA TTGGCCAGACCTGTGTCACA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255A_chrX_120253650_120316461	120296884	TTATATAT others(87): Show TTATATATGATATATATAATATTATATATATATTATATATAATATTATAT ATATAATATTATATATATATTATATATAATATATAATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	303	0.0033	-94	c.202 others(111): Show c.202-2927_202-2834delTATATAATATTATATATTATATATAATA TATATATAATATTATATATATAATATTATATATAATATATATATAATATT ATATATATCATATATA	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM255A_chrX_120253650_120316461	120296889	TATGATAT others(87): Show TATGATATATATAATATTATATATATATTATATATAATATTATATATATA ATATTATATATATATTATATATAATATATAATATTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0272 a0001c0001t0001g0215 a0001c0001t0001g0272	2	303	0.0066	-94	c.202 others(111): Show c.202-2932_202-2839delTAATATATATAATATTATATATTATATA TAATATATATATAATATTATATATATAATATTATATATAATATATATATA ATATTATATATATCAT	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMPRSS12_chr12_50837926_50892884	50872742	ATACGTCT others(87): Show ATACGTCTATATATGTACATATATATGACGTATATATGTACATATATATG ACGTATATATGTACATATATATGACGTATATATGTACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp1 HG03540.hp2 HG02970.hp2 HG03486.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159	3	390	0.0077	-94	c.653 others(113): Show c.653-12503_653-12410delTACGTCTATATATGTACATATATATG ACGTATATATGTACATATATATGACGTATATATGTACATATATATGACGT ATATATGTACATATATAT	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4			chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	GGGGGTTA others(87): Show GGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCTA GGGTTAGGGAGGCCGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18944.hp1 NA18968.hp2 others(6): Show NA18940.hp1 NA18944.hp1 NA18968.hp2 NA18974.hp2 NA18985.hp2 NA19054.hp1 NA19063.hp1 NA19075.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0026 a0002c0002t0002g0068 others(3): Show a0002c0002t0002g0004 a0002c0002t0002g0026 a0002c0002t0002g0068 a0002c0002t0002g0105 a0002c0002t0002g0120 a0002c0002t0002g0171	9	466	0.0193	-94	c.49 others(105): Show c.4955_*5048delGGCCTCCCTAACCCTAGGCCTCCCTAACCCCGGC CTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCT CCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3416765	CTGCCCTC others(87): Show CTGCCCTCCCCCTGCCCCTTCACTGTGCCCTCCCCCTGCCCCTTCACTGT GCCCTCCCCCTGCCCCTTCACTGCCCTCCCCCTGCCCCTTCACTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	344	0.0029	-94	c.116 others(113): Show c.1165-5043_1165-4950delCCCTCCCCCTGCCCCTTCACTGTGCC CTCCCCCTGCCCCTTCACTGTGCCCTCCCCCTGCCCCTTCACTGTGCCCT CCCCCTGCCCCTTCACTG	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRARG1_chr17_1274662_1305978	1288903	ACCAGACT others(87): Show ACCAGACTCCCCATCCCCCACGGGTTCCCCATCCCCCACCGGACTCCCCA TCCCCCACCGGACTCCCCATCCCCCACGGGCTCCCCATCCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp1 HG02257.hp1 others(17): Show HG00741.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0003c0003t0033 a0003c0003t0034	a0001c0001t0001g0290 a0001c0001t0004g0025 a0001c0001t0004g0062 others(15): Show a0001c0001t0001g0290 a0001c0001t0004g0025 a0001c0001t0004g0062 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0008g0046 a0001c0001t0008g0282 a0001c0001t0008g0284 a0001c0001t0008g0286 a0001c0001t0008g0291 a0001c0001t0008g0295 a0001c0001t0023g0287 a0001c0001t0027g0281 a0001c0001t0027g0283 a0001c0001t0028g0307 a0001c0001t0041g0285 a0003c0003t0033g0207 a0003c0003t0034g0208	20	402	0.0498	-94	c.388 others(111): Show c.388-6586_388-6493delCAGACTCCCCATCCCCCACGGGTTCCCC ATCCCCCACCGGACTCCCCATCCCCCACCGGACTCCCCATCCCCCACGGG CTCCCCATCCCCCACC	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
TRIM56_chr7_101080481_101102967	101092551	GCAGCCGC others(87): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTCCCGGCCA GCCGCGCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0001 a0001c0001t0084g0001	1	420	0.0024	-94	c.29 others(105): Show c.2979_*3072delCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCT CCCGGCCAGCCGCGCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCC GGCCAGCCGC	TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3	2979	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIML1_chr4_188134441_188152743	188151725	ATTGAGAG others(87): Show ATTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	228	0.0044	-94	c.43 others(105): Show c.4354_*4447delTTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3983		chr4	TogoVar
TRIML2_chr4_188086272_188114603	188107022	TATTTATT others(87): Show TATTTATTTATTTTTGAGACCGAATCTCTGTCGCCCAGGCTGGAGCACAG TGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(65): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02027.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp2 HG02647.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18979.hp1 NA18980.hp2 NA18987.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0037 a0001c0002t0039 a0001c0003t0003 a0001c0003t0005 a0001c0004t0003 a0001c0004t0006 a0001c0004t0017 a0001c0004t0021 a0001c0004t0022 a0001c0004t0036 a0001c0004t0043	a0001c0001t0004g0032 a0001c0001t0005g0095 a0001c0001t0007g0065 others(52): Show a0001c0001t0004g0032 a0001c0001t0005g0095 a0001c0001t0007g0065 a0001c0002t0037g0054 a0001c0002t0039g0094 a0001c0003t0003g0076 a0001c0003t0005g0067 a0001c0003t0005g0093 a0001c0004t0003g0003 a0001c0004t0003g0015 a0001c0004t0003g0016 a0001c0004t0003g0017 a0001c0004t0003g0018 a0001c0004t0003g0062 a0001c0004t0003g0063 a0001c0004t0003g0064 a0001c0004t0003g0066 a0001c0004t0003g0068 a0001c0004t0003g0069 a0001c0004t0003g0070 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0073 a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0077 a0001c0004t0003g0078 a0001c0004t0003g0079 a0001c0004t0003g0080 a0001c0004t0003g0081 a0001c0004t0003g0082 a0001c0004t0003g0083 a0001c0004t0003g0084 a0001c0004t0003g0085 a0001c0004t0003g0086 a0001c0004t0003g0087 a0001c0004t0003g0088 a0001c0004t0003g0089 a0001c0004t0003g0090 a0001c0004t0003g0091 a0001c0004t0003g0092 a0001c0004t0003g0096 a0001c0004t0003g0097 a0001c0004t0003g0098 a0001c0004t0006g0134 a0001c0004t0017g0161 a0001c0004t0017g0162 a0001c0004t0017g0163 a0001c0004t0021g0052 a0001c0004t0021g0053 a0001c0004t0022g0132 a0001c0004t0022g0133 a0001c0004t0022g0135 a0001c0004t0036g0049 a0001c0004t0043g0231	68	430	0.1581	-94	c.-22 others(113): Show c.-222-1526_-222-1433delGTTGAACCCGGGAGGCGGAGGTTGCA GTGAGCTGAGATCGTGCCACTGTGCTCCAGCCTGGGCGACAGAGATTCGG TCTCAAAAATAAATAAAT	TRIML2	ENSG00000179046.9	transcript	ENST00000682553.1	protein_coding	1/7			chr4	TogoVar
TRIQK_chr8_92878534_92971144	92949682	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02027.hp2 others(7): Show HG00738.hp1 HG01169.hp1 HG02027.hp2 HG02132.hp1 HG02280.hp2 HG04184.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0001 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0009g0041 a0001c0001t0013g0116	10	342	0.0292	-94	c.-22 others(111): Show c.-22+4630_-22+4723delCTTTCCTTCTCTTTCTTTCCTTCCCTTT CCTTCCTTTCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTTCTCTT TTCTTTCTTTCTTTCT	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TRPC6_chr11_101446564_101589007	101499686	ATATAAAA others(87): Show ATATAAAATGTGTATATATATATACACATTTTATATTGTGTATATGTGTA TATATATATACACAATATATAATGTGTATATATATATATACACAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0141 a0002c0004t0002g0141	1	252	0.0040	-94	c.945 others(111): Show c.945+4244_945+4337delCTGTGTATATATATATATACACATTATA TATTGTGTATATATATATACACATATACACAATATAAAATGTGTATATAT ATATACACATTTTATA	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	2/12			chr11	TogoVar
TSPEAR_chr21_44492893_44716572	44504515	GGGAGGAG others(87): Show GGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGG AGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03453.hp1 others(3): Show HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp2 NA21309.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0008 a0009c0016 a0001c0001 a0008c0008 a0009c0016	a0001c0001t0001 a0001c0001t0021 a0008c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0021 a0008c0008t0001 a0009c0016t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0021g0270 a0008c0008t0001g0010 a0009c0016t0001g0022	6	294	0.0204	-94	c.185 others(111): Show c.1856+171_1856+264delAAGAGACTTGCTTCCCCACTGTGGGCTC ACCGAGGCCGGCCTCCTCCAAGAGACTTGCTTCCCCACTGTGGGCTCACC GAGGCCGGCCTCCTCC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TUBA8_chr22_18105809_18136732	18106848	CGTAGTTC others(87): Show CGTAGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATG TGGTTTCAGTCTGTCTGAAGGCTGAGACCCAGGAGAGCTGATGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	426	0.0024	-94	c.-40 others(105): Show c.-4017_-3924delGTAGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA GGAGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGGCTGAGACCCAGGAG AGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		3960		chr22	TogoVar
UGGT2_chr13_95796580_96058401	95862857	ATTCCTTA others(87): Show ATTCCTTATGTATGTTTCTTTTTCGAGACAGGGTCTCACTCTGTCACCCA GGCTGGAGTGCAGCGTTGCAATCTTGACTTACTGCAGCTTTGACC	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	332	0.0030	-94	c.364 others(111): Show c.3644+678_3644+771delGGTCAAAGCTGCAGTAAGTCAAGATTGC AACGCTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCGAAAAAG AAACATACATAAGGAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	31/38			chr13	TogoVar
UROC1_chr3_126476166_126522773	126516053	TACCACCT others(87): Show TACCACCTACCCACCCCCTCCTCACCCCAGCACCCACCACCTATCCTCCC AACTCCCAGCACCCACCACCTACTGTCCCCTGCCCCCCAGCGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(64): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18959.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19079.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0009c0032	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0004t0011 a0002c0005t0003 a0002c0005t0006 a0009c0032t0005	a0001c0001t0002g0003 a0001c0001t0002g0051 a0001c0001t0002g0152 others(52): Show a0001c0001t0002g0003 a0001c0001t0002g0051 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0319 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0157 a0001c0001t0003g0201 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0166 a0001c0001t0005g0163 a0001c0001t0006g0009 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0168 a0001c0001t0007g0313 a0001c0001t0011g0024 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0067 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0190 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0316 a0001c0003t0001g0159 a0001c0004t0002g0158 a0001c0004t0002g0209 a0001c0004t0011g0160 a0002c0005t0003g0162 a0002c0005t0006g0008 a0009c0032t0005g0175	67	380	0.1763	-94	c.126 others(111): Show c.126+1447_126+1540delGGGCGCTGGGGGGCAGGGGACAGTAGGT GGTGGGTGCTGGGAGTTGGGAGGATAGGTGGTGGGTGCTGGGGTGAGGAG GGGGTGGGTAGGTGGT	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USH2A_chr1_215617891_216428448	215652240	CAAAAGTT others(87): Show CAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTC AATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0028 a0028	a0028c0022 a0028c0022	a0028c0022t0001 a0028c0022t0001	a0028c0022t0001g0002 a0028c0022t0001g0002	1	74	0.0135	-94	c.141 others(115): Show c.14134-1533_14134-1440delATTTATGCATATGGATGGCATACA GAATCAAAAACCCTGCTCATTGAAACAGGCACTGGAGAGCAGAATTCTTG TTTCAGCACTTGTAACTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	64/71			chr1	TogoVar
VPS13B_chr8_99008274_99882580	99850218	CATACCTA others(87): Show CATACCTACATAAGTACGCATGTATGTACTTATACATACATACATAAGTA CGCATGTATGTACTTATACATACATAAGTACGCATGTATGTACTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0028 a0002c0003t0008g0036 a0002c0003t0008g0028 a0002c0003t0008g0036	2	134	0.0149	-94	c.100 others(115): Show c.10061+1329_10061+1422delCTACATAAGTACGCATGTATGTAC TTATACATACATACATAAGTACGCATGTATGTACTTATACATACATAAGT ACGCATGTATGTACTTATAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS53_chr17_503668_719839	660609	TGGTGCTG others(87): Show TGGTGCTGCTGGGTGTGGTGCACCCTTGGGGAAGGACGAGGGCCCCTGGG TGCTGCTGGGTGTGGTGCATCCTTGGTGAAGGACGAGGGCCCCTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show HG01074.hp2 NA18747.hp2 NA18955.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 others(2): Show a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 a0001c0005t0080 a0001c0011t0051	a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 others(2): Show a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 a0001c0005t0080g0092 a0001c0011t0051g0091	5	232	0.0216	-94	c.372 others(111): Show c.372+1106_372+1199delCAGGGGCCCTCGTCCTTCACCAAGGATG CACCACACCCAGCAGCACCCAGGGGCCCTCGTCCTTCCCCAAGGGTGCAC CACACCCAGCAGCACC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VSTM4_chr10_49009236_49120522	49062335	ATTTTAGT others(87): Show ATTTTAGTCATTAAAGTTGGTCTGACAGTGACAATCTCTTTTAGCTTTCC TTCTTCTGAGAATGTCTTTATTTCCCTTTCATGTCTGGAGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG00642.hp2 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0057 a0002c0002t0006g0058 a0002c0002t0006g0057 a0002c0002t0006g0058	2	280	0.0071	-94	c.668 others(111): Show c.668+2274_668+2367delCTGTCCTCCAGACATGAAAGGGAAATAA AGACATTCTCAGAAGAAGGAAAGCTAAAAGAGATTGTCACTGTCAGACCA ACTTTAATGACTAAAA	VSTM4	ENSG00000165633.13	transcript	ENST00000332853.9	protein_coding	5/7			chr10	TogoVar
WDSUB1_chr2_159230798_159291703	159283568	CTAGAGTT others(87): Show CTAGAGTTCTAGAAAATAGAGTATTTTCTATTCTAATAAACTATCTTAGC TGTTCCCTTCACAGGATGGAGCCAAGGCTATCTGCTCCGCCTTCA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	252	0.0040	-94	c.-24 others(109): Show c.-24-569_-24-476delTGAAGGCGGAGCAGATAGCCTTGGCTCCAT CCTGTGAAGGGAACAGCTAAGATAGTTTATTAGAATAGAAAATACTCTAT TTTCTAGAACTCTA	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding	1/10			chr2	TogoVar
YTHDC2_chr5_113508694_113600284	113587394	TATATAAT others(87): Show TATATAATATATAAATATATATTATGTATTCATATATAATATATAAATAT ATATTATGTATTCATATATAATATATAAATATATATTATGTATTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0077 a0004c0005t0001g0077	1	316	0.0032	-94	c.382 others(113): Show c.3825+2928_3825+3021delAATATATATTATGTATTCATATATAA TATATAAATATATATTATGTATTCATATATAATATATAAATATATATTAT GTATTCATATAATATATA	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZBTB45_chr19_58508530_58524810	58523838	TTTTTTTG others(87): Show TTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATA TGGACTCCATCTTTAAAAATATATATATATAGAAAAATTAGCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.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 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.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(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0013 a0001c0016 a0002c0004 a0003c0005 a0004c0007 a0005c0006 a0006c0015 a0008c0012 a0009c0017 a0010c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0016t0001 a0002c0004t0001 a0002c0004t0003 a0003c0005t0001 a0004c0007t0001 a0005c0006t0001 a0006c0015t0001 a0008c0012t0001 a0009c0017t0001 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0066 a0001c0002t0004g0037 a0001c0009t0001g0042 a0001c0011t0001g0055 a0001c0013t0001g0057 a0001c0016t0001g0067 a0002c0004t0001g0013 a0002c0004t0003g0065 a0003c0005t0001g0016 a0004c0007t0001g0043 a0004c0007t0001g0044 a0005c0006t0001g0027 a0006c0015t0001g0068 a0008c0012t0001g0056 a0009c0017t0001g0032 a0010c0010t0001g0040	314	410	0.7659	-94	c.-41 others(105): Show c.-4191_-4098delCCAGCTAATTTTTCTATATATATATATTTTTAAA GATGGAGTCCATATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAA ATACAAAAAA	ZBTB45	ENSG00000119574.13	transcript	ENST00000594051.6	protein_coding		4029		chr19	TogoVar
ZMAT4_chr8_40525590_40902826	40601488	AGAAAGAG others(87): Show AGAAAGAGAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAGGGAGAAAGGG GAAGGGGGAGTGAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	228	0.0044	-94	c.578 others(113): Show c.578-20321_578-20228delCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTCACTCCCCCTTCCCCTTTCTCCCTCTTTCTTTCTCTTTCTCTT TCTTTCTTTCTCTCTTTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF429_chr19_21500602_21545668	21502101	CAATAGGG others(87): Show CAATAGGGCTCTATAGCAGATTATACCATAAAAACTATGCTTACACAATA GACTTTAAGTTTTCTCACAAAGTTATGCTAAATATAATTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0084 a0009c0007t0001g0084	1	222	0.0045	-94	c.-36 others(105): Show c.-3670_-3577delAATAGGGCTCTATAGCAGATTATACCATAAAAAC TATGCTTACACAATAGACTTTAAGTTTTCTCACAAAGTTATGCTAAATAT AATTTCTTTT	ZNF429	ENSG00000197013.11	transcript	ENST00000358491.9	protein_coding		3500		chr19	TogoVar
ZNF440_chr19_11809273_11840216	11811898	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0055 a0006c0007t0006g0055	1	376	0.0027	-94	c.-25 others(105): Show c.-2549_-2456delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	ZNF440	ENSG00000171295.13	transcript	ENST00000304060.10	protein_coding		2374		chr19	TogoVar
ZNF474_chr5_122124546_122158569	122157071	TAAAGCTA others(87): Show TAAAGCTACAAATGTTCTTCTCTGGCTAAGTATCTTATTCTTTACAGGCA AAACTCACAGTGGGAAGAGCATAATCAGAAAAACACATGAGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	386	0.0026	-94	c.39 others(105): Show c.3987_*4080delAAAGCTACAAATGTTCTTCTCTGGCTAAGTATCT TATTCTTTACAGGCAAAACTCACAGTGGGAAGAGCATAATCAGAAAAACA CATGAGGGCA	ZNF474	ENSG00000164185.7	transcript	ENST00000296600.5	protein_coding		3503		chr5	TogoVar
ZNF491_chr19_11793523_11813503	11811898	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	390	0.0026	-94	c.46 others(105): Show c.4632_*4725delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	ZNF491	ENSG00000177599.13	transcript	ENST00000323169.10	protein_coding		3396		chr19	TogoVar
ZNF609_chr15_64455578_64691068	64577334	TACATATA others(87): Show TACATATATATGTATATATATACACATATATGTATATATATACACATATA AATATATACACATATATGTATATATATACACATATAAATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0071 a0001c0002t0023g0071	1	176	0.0057	-94	c.748 others(113): Show c.748-45484_748-45391delATGTATATATATACACATATATGTAT ATATATACACATATAAATATATACACATATATGTATATATATACACATAT AAATATATACACATATAT	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF609_chr15_64455578_64691068	64577358	CATATATG others(87): Show CATATATGTATATATATACACATATAAATATATACACATATATGTATATA TATACACATATAAATATATACACATATATGTATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02486.hp1 HG03688.hp2 others(1): Show HG00323.hp1 HG02486.hp1 HG03688.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0005g0156	4	176	0.0227	-94	c.748 others(113): Show c.748-45465_748-45372delTATGTATATATATACACATATAAATA TATACACATATATGTATATATATACACATATAAATATATACACATATATG TATATATATACACATATA	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF701_chr19_52565287_52592174	52581014	CTCAGGAG others(87): Show CTCAGGAGGCTGAGCAAAGAGACTTGCTTGAACCCAGGAGGCAGAGGCTG CAGTGAGCCAAGATCATGCCATTGCACTCTGTCCAGTGACAGAGT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0110 a0003c0002t0110	a0003c0002t0110g0241 a0003c0002t0110g0241	1	456	0.0022	-94	c.143 others(111): Show c.143-1187_143-1094delTCAGGAGGCTGAGCAAAGAGACTTGCTT GAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGATCATGCCATTGCACTC TGTCCAGTGACAGAGT	ZNF701	ENSG00000167562.14	transcript	ENST00000391785.8	protein_coding	3/3			chr19	TogoVar
ZNF71_chr19_56590302_56629486	56609616	CCATAAAT others(87): Show CCATAAATGAGGCATACGATATGGATTTTGCCTGTTCTGGACATTGTACA TAAATGAGCCATACGATATGGATTTTGCCTGTTCTGGACATTGTA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG03139.hp2 others(1): Show HG02257.hp1 HG02647.hp2 HG03139.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0010 a0003c0004t0025 a0001c0001t0004 a0003c0004t0010 a0003c0004t0025	a0001c0001t0004g0063 a0003c0004t0010g0122 a0003c0004t0010g0124 others(1): Show a0001c0001t0004g0063 a0003c0004t0010g0122 a0003c0004t0010g0124 a0003c0004t0025g0123	4	432	0.0093	-94	c.34- others(109): Show c.34-4161_34-4068delTCTGGACATTGTACATAAATGAGCCATACG ATATGGATTTTGCCTGTTCTGGACATTGTACATAAATGAGGCATACGATA TGGATTTTGCCTGT	ZNF71	ENSG00000197951.10	transcript	ENST00000599599.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	TTATATAT others(86): Show TTATATATATGCACATATACACATTATATGTGTATATATATGCACATATA CACATTATATGTGTATATATATGCACATATACACATTATATGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp2 others(31): Show HG00408.hp1 HG00438.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp1 HG02080.hp2 HG02257.hp1 HG02293.hp1 HG02572.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG06807.hp1 NA18943.hp2 NA18964.hp1 NA18984.hp1 NA18988.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0001c0005 a0001c0014 others(20): Show a0001c0002 a0001c0005 a0001c0014 a0001c0021 a0001c0025 a0001c0043 a0002c0001 a0002c0004 a0002c0011 a0002c0052 a0002c0066 a0003c0009 a0003c0013 a0003c0015 a0004c0003 a0004c0008 a0005c0020 a0005c0024 a0005c0026 a0005c0035 a0005c0045 a0005c0075 a0007c0061	a0001c0002t0004 a0001c0002t0065 a0001c0002t0066 others(28): Show a0001c0002t0004 a0001c0002t0065 a0001c0002t0066 a0001c0005t0004 a0001c0005t0012 a0001c0014t0030 a0001c0014t0034 a0001c0021t0016 a0001c0025t0008 a0001c0043t0052 a0002c0001t0004 a0002c0001t0033 a0002c0001t0036 a0002c0004t0017 a0002c0004t0074 a0002c0011t0039 a0002c0052t0069 a0002c0066t0006 a0003c0009t0001 a0003c0009t0003 a0003c0013t0001 a0003c0015t0001 a0004c0003t0001 a0004c0008t0003 a0005c0020t0017 a0005c0024t0002 a0005c0026t0058 a0005c0035t0010 a0005c0045t0013 a0005c0075t0071 a0007c0061t0003	a0001c0002t0004g0081 a0001c0002t0065g0071 a0001c0002t0066g0213 others(31): Show a0001c0002t0004g0081 a0001c0002t0065g0071 a0001c0002t0066g0213 a0001c0005t0004g0104 a0001c0005t0012g0211 a0001c0014t0030g0001 a0001c0014t0034g0017 a0001c0021t0016g0113 a0001c0025t0008g0208 a0001c0043t0052g0124 a0002c0001t0004g0121 a0002c0001t0033g0010 a0002c0001t0036g0003 a0002c0004t0017g0128 a0002c0004t0017g0129 a0002c0004t0074g0228 a0002c0011t0039g0013 a0002c0052t0069g0076 a0002c0066t0006g0176 a0003c0009t0001g0218 a0003c0009t0003g0043 a0003c0013t0001g0123 a0003c0015t0001g0085 a0004c0003t0001g0093 a0004c0003t0001g0190 a0004c0008t0003g0042 a0005c0020t0017g0198 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0026t0058g0109 a0005c0035t0010g0021 a0005c0045t0013g0005 a0005c0075t0071g0187 a0007c0061t0003g0009	34	228	0.1491	-93	c.118 others(112): Show c.1182-7221_1182-7129delCACATATAATGTGTATATGTGCATAT ATATACACATATAATGTGTATATGTGCATATATATACACATATAATGTGT ATATGTGCATATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179277882	CCCCCCTG others(86): Show CCCCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACC CCCCCCGAGACCAACGGCTGACCCCCTCCAAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0140 a0005c0033t0003g0140	1	276	0.0036	-93	c.535 others(110): Show c.535-4911_535-4819delTCAGCCTTTGGTCTTGGAGGGGGTCAGC CGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTT TGGTCTCGCAGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1236433	CAGCCATG others(86): Show CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0053 a0002c0002t0043g0053	1	106	0.0094	-93	c.136 others(112): Show c.1362-2681_1362-2589delCTCCAGCTTCACAGCTGGTGGGAGTT TTGCAACAGGCAAATCATTCACCATCAGAGAGGCTGGGAACTCTCCCGCC CCACCTGGGTCATGGCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238355	GCCTCCCG others(86): Show GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-93	c.136 others(112): Show c.1361+3683_1361+3775delAAGAGGGGAGTAAACACCGGGAGGGA GAGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGATGCAGG GAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238619	CTCCCGGT others(86): Show CTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0022 a0002c0004t0005 a0001c0001t0022 a0002c0004t0005	a0001c0001t0022g0015 a0002c0004t0005g0029 a0001c0001t0022g0015 a0002c0004t0005g0029	2	106	0.0189	-93	c.136 others(112): Show c.1361+3419_1361+3511delTGCAGGGAGTAAACACCGGGAGGCAG GGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGACAGAG GGGAGTGAACACCGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131037359	CTGGGTCT others(86): Show CTGGGTCTTACTCACTGCACTGGGGTCTCACTCACTACACCAGGTCTCAG TCACTGCACTGGGTCTCACTGCACCAGGATCTTACTCACTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19043.hp2 HG01934.hp2 NA19043.hp2	a0001 a0001	a0001c0022 a0001c0025 a0001c0022 a0001c0025	a0001c0022t0016 a0001c0025t0021 a0001c0022t0016 a0001c0025t0021	a0001c0022t0016g0109 a0001c0025t0021g0119 a0001c0022t0016g0109 a0001c0025t0021g0119	2	242	0.0083	-93	c.147 others(114): Show c.1473+23020_1473+23112delTGGGTCTTACTCACTGCACTGGGG TCTCACTCACTACACCAGGTCTCAGTCACTGCACTGGGTCTCACTGCACC AGGATCTTACTCACTGCAT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24			chr12	TogoVar
AHRR_chr5_316714_443285	382731	ATTTGTCT others(86): Show ATTTGTCTATTTGTCTATTTTCCATTTCATTAATTTCCACTCTTCTTGTT TGTAATTTATTTCCTTCTACTTGCTCTAGTTTTAAATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp2 others(23): Show HG00280.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0005c0005 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0046 a0001c0001t0050 a0001c0001t0059 a0001c0001t0060 a0002c0002t0001 a0004c0003t0024 a0005c0005t0038 a0005c0005t0039 a0012c0018t0017	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0006g0262 a0001c0001t0013g0154 a0001c0001t0013g0254 a0001c0001t0017g0264 a0001c0001t0022g0238 a0001c0001t0027g0153 a0001c0001t0046g0252 a0001c0001t0050g0155 a0001c0001t0059g0016 a0001c0001t0060g0261 a0002c0002t0001g0080 a0002c0002t0001g0255 a0004c0003t0024g0029 a0005c0005t0038g0024 a0005c0005t0039g0250 a0012c0018t0017g0265	26	268	0.0970	-93	c.351 others(110): Show c.351+6019_351+6111delGTCTATTTGTCTATTTTCCATTTCATTA ATTTCCACTCTTCTTGTTTGTAATTTATTTCCTTCTACTTGCTCTAGTTT TAAATATTTTATTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIG1_chr6_143055889_143346058	143171413	TATATATA others(86): Show TATATATATAATATATATAATATATATATAATATATATATTTAATATATA TATTTAATATATATAATATATATTAAATATATAATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18984.hp2 NA19006.hp1 others(2): Show NA18943.hp1 NA18984.hp2 NA19006.hp1 NA19012.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0126 a0001c0001t0007g0084 a0001c0002t0001g0191 others(2): Show a0001c0001t0001g0126 a0001c0001t0007g0084 a0001c0002t0001g0191 a0001c0002t0003g0158 a0001c0002t0003g0190	5	204	0.0245	-93	c.399 others(110): Show c.399+6249_399+6341delATATATATATAATATATATATTTAATAT ATATATTTAATATATATAATATATATTAAATATATAATATATATTTAATA TATATAATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)