Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(78): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(72): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19063.hp1 NA19070.hp2 NA19079.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0026 a0030 a0031	a0001c0001 a0001c0002 a0001c0015 others(8): Show a0001c0001 a0001c0002 a0001c0015 a0001c0017 a0002c0003 a0003c0004 a0003c0005 a0011c0042 a0026c0045 a0030c0050 a0031c0033	a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 others(12): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0019 a0001c0015t0004 a0001c0017t0004 a0002c0003t0001 a0003c0004t0001 a0003c0005t0001 a0003c0005t0016 a0011c0042t0010 a0026c0045t0017 a0030c0050t0012 a0031c0033t0010	a0001c0001t0003g0064 a0001c0001t0003g0074 a0001c0001t0003g0075 others(69): Show a0001c0001t0003g0064 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0195 a0001c0002t0003g0191 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0171 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0200 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0207 a0001c0002t0004g0208 a0001c0002t0004g0238 a0001c0002t0004g0244 a0001c0002t0004g0245 a0001c0002t0004g0251 a0001c0002t0010g0018 a0001c0002t0010g0256 a0001c0002t0010g0259 a0001c0002t0010g0260 a0001c0002t0010g0261 a0001c0002t0010g0262 a0001c0002t0019g0265 a0001c0015t0004g0170 a0001c0017t0004g0155 a0002c0003t0001g0032 a0002c0003t0001g0033 a0003c0004t0001g0139 a0003c0005t0001g0201 a0003c0005t0001g0202 a0003c0005t0001g0203 a0003c0005t0001g0212 a0003c0005t0001g0224 a0003c0005t0001g0225 a0003c0005t0001g0239 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0016g0028 a0011c0042t0010g0257 a0026c0045t0017g0193 a0030c0050t0012g0298 a0031c0033t0010g0258	75	416	0.1803	-85	c.201 others(102): Show c.2015-466_2015-382delGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGT GTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ENHO_chr9_34516043_34527990	34518759	TAGACATG others(78): Show TAGACATGGGTGGGAGCCTGCCCTGCCCACTCTGATCCAGGGAGGTAAGC ATCTCCCATAGTTTCAGTTCCCCTCAGAGAAGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-85	c.26 others(96): Show c.2621_*2705delGACCCTTCTCTGAGGGGAACTGAAACTATGGGAG ATGCTTACCTCCCTGGATCAGAGTGGGCAGGGCAGGCTCCCACCCATGTC T	ENHO	ENSG00000168913.7	transcript	ENST00000399775.3	protein_coding		2283		chr9	TogoVar
ESPNL_chr2_238095340_238138287	238118136	AATGGATG others(78): Show AATGGATGGAGGAGGGTGGATGGAGGAGGAATGGATGGAGGAATGGATGG TGGAGGATGGTTGGAGGAGGGCAGATGGAGCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02027.hp2 HG02559.hp1 others(1): Show HG01081.hp1 HG02027.hp2 HG02559.hp1 NA19240.hp2	a0001 a0015 a0050 a0001 a0015 a0050	a0001c0042 a0015c0124 a0015c0137 others(1): Show a0001c0042 a0015c0124 a0015c0137 a0050c0096	a0001c0042t0009 a0015c0124t0003 a0015c0137t0003 others(1): Show a0001c0042t0009 a0015c0124t0003 a0015c0137t0003 a0050c0096t0003	a0001c0042t0009g0087 a0015c0124t0003g0165 a0015c0137t0003g0164 others(1): Show a0001c0042t0009g0087 a0015c0124t0003g0165 a0015c0137t0003g0164 a0050c0096t0003g0166	4	408	0.0098	-85	c.987 others(102): Show c.987+1158_987+1242delATGGTTGGAGGAGGGCAGATGGAGCAGC AGATGGATGGAGGAGGGTGGATGGAGGAGGAATGGATGGAGGAATGGATG GTGGAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747171	TATATATA others(78): Show TATATATATAATATATATATATATTATATATATATATAATATATATATAT ATATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0301 a0002c0002t0001g0301	1	378	0.0027	-85	c.108 others(102): Show c.1083-405_1083-321delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS2_chr21_38800929_38829955	38815972	AAGGAAGG others(78): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG GGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG01891.hp2 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0026 a0002c0005t0005 a0002c0004t0026 a0002c0005t0005	a0002c0004t0026g0340 a0002c0005t0005g0341 a0002c0004t0026g0340 a0002c0005t0005g0341	2	426	0.0047	-85	c.505 others(100): Show c.505+992_506-951delAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGA GGGAG	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9			chr21	TogoVar
EXOC2_chr6_480154_698139	515574	AGTCCTAG others(78): Show AGTCCTAGGAGGGAGCGAGAAGCCAGAGTGACCGTAATCATACAACGATT TCCAACAACAAAGGAGAGACGCACACAGCTGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(27): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG01192.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02523.hp1 HG02738.hp2 HG04184.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18992.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19074.hp2 NA19085.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0007c0023t0002	a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 others(27): Show a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0252 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0005g0027 a0001c0001t0005g0091 a0001c0001t0006g0093 a0001c0001t0015g0019 a0001c0002t0001g0056 a0001c0002t0004g0009 a0001c0002t0004g0070 a0001c0002t0004g0113 a0001c0003t0001g0206 a0007c0023t0002g0051	30	272	0.1103	-85	c.238 others(106): Show c.2381-15959_2381-15875delCGCCCCAGCTGTGTGCGTCTCTCC TTTGTTGTTGGAAATCGTTGTATGATTACGGTCACTCTGGCTTCTCGCTC CCTCCTAGGAC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	515691	CGTAATCA others(78): Show CGTAATCATACAACGATTTCCAACAACAAAGGAGAGACGCACACAGCTGG GGCGGTCCTAGGAGGGAGCGAGAAGCCAGAGTGACT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp1 HG02602.hp2 HG00609.hp2 HG02109.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0005 a0001c0001t0001 a0001c0001t0003 a0001c0003t0005	a0001c0001t0001g0045 a0001c0001t0003g0124 a0001c0003t0005g0176 a0001c0001t0001g0045 a0001c0001t0003g0124 a0001c0003t0005g0176	3	272	0.0110	-85	c.238 others(106): Show c.2381-16076_2381-15992delAGTCACTCTGGCTTCTCGCTCCCT CCTAGGACCGCCCCAGCTGTGTGCGTCTCTCCTTTGTTGTTGGAAATCGT TGTATGATTAC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EZR_chr6_158760748_158824368	158803577	ATATACAT others(78): Show ATATACATATATATATATATATATATATACATATATATATATATATATAC ATATACATACATATATATATATATATACATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	312	0.0032	-85	c.13- others(102): Show c.13-14291_13-14207delATATATATGTATATATATATATATATGT ATGTATATGTATATATATATATATATATGTATATATATATATATATATAT ATGTATA	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F7_chr13_113100791_113125685	113108431	GGAGTGGG others(78): Show GGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCAG GAGCGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	400	0.0025	-85	c.65- others(100): Show c.65-2257_65-2173delAGTGGGTGTCCCGGGAGTGTGGGTGTTCCG GAGGCGAGGGTGTCCCAGGAGCGTGGGTGTCCCGGAGGCGAGGGTGTCCC GGGAG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108759	AGGGTGTC others(78): Show AGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGC GTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(97): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0010t0001 a0002c0002t0003 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0004g0234 a0001c0001t0017g0233 a0001c0001t0019g0214 a0001c0001t0023g0200 a0001c0010t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198 a0007c0009t0001g0008	100	400	0.2500	-85	c.65- others(100): Show c.65-1907_65-1823delCCCAGGGGTGTGGGTGTCCCGGGGGCGTGG GTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTG GGTGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108912	AGGGTGTC others(78): Show AGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGC GTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	400	0.0025	-85	c.65- others(100): Show c.65-1763_65-1679delCGTGGGTGTCCCGGGGGCGTGGGTGTCCCG GGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCC GGGAG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAAP24_chr19_32967242_32983229	32983077	CACACACA others(78): Show CACACACACACACACACACTCCTGCAATGCGTACCATCACATTCTTTGAA AAGCTTTTCTTGGCCCAGATCTCTACACACACACAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	452	0.0022	-85	c.63 others(96): Show c.6396_*6480delACACACACACACACACACTCCTGCAATGCGTACC ATCACATTCTTTGAAAAGCTTTTCTTGGCCCAGATCTCTACACACACACA A	FAAP24	ENSG00000131944.11	transcript	ENST00000588258.6	protein_coding		4849		chr19	TogoVar
FAM227A_chr22_38573118_38661392	38644315	AAAAGAGG others(78): Show AAAAGAGGTGAACAGGTGGAGCACAGAGGACTGTTGGGACAGCGAAACTA TGCTGTGTGACACTACAATGGTAGATACATGTCATT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19002.hp1 NA19085.hp2 HG02056.hp2 NA19002.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0044g0143 a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0044g0143	3	328	0.0092	-85	c.225 others(102): Show c.225+1163_225+1247delAATGACATGTATCTACCATTGTAGTGTC ACACAGCATAGTTTCGCTGTCCCAACAGTCCTCTGTGCTCCACCTGTTCA CCTCTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	3/16			chr22	TogoVar
FAM78B_chr1_166064299_166172001	166077874	TTATATAT others(78): Show TTATATATATAATAAATATATATAATTTATATATATAATTATATATATAA TAAATATATAATAATATATATAATTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02738.hp1 homoSapiens_chm13v2.hp1 HG01515.hp2 HG02738.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295	3	318	0.0094	-85	c.264 others(102): Show c.264-7196_264-7112delTTATATATATAAATTATATATATTATTA TATATTTATTATATATATAATTATATATATAAATTATATATATTTATTAT ATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAN1_chr15_30898915_30948108	30929728	TATATAAT others(78): Show TATATAATATATTATATCATATATAATATAATATATAAAATATATAATAT ATTATATCATATATAATATAATATATAAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp2 HG02129.hp2 others(3): Show HG00558.hp2 HG02083.hp2 HG02129.hp2 HG02523.hp2 NA18972.hp2 NA18989.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0002c0006 a0012c0013 a0002c0002 a0002c0006 a0012c0013	a0002c0002t0001 a0002c0006t0001 a0012c0013t0001 a0002c0002t0001 a0002c0006t0001 a0012c0013t0001	a0002c0002t0001g0153 a0002c0002t0001g0171 a0002c0006t0001g0015 others(1): Show a0002c0002t0001g0153 a0002c0002t0001g0171 a0002c0006t0001g0015 a0012c0013t0001g0172	6	303	0.0198	-85	c.278 others(102): Show c.2787+337_2787+421delATATATTATATCATATATAATATAATAT ATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATA TAATATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FAN1_chr15_30898915_30948108	30929734	ATATATTA others(78): Show ATATATTATATCATATATAATATAATATATAAAATATATAATATATTATA TCATATATAATATAATATATAAAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18951.hp1 NA18964.hp2 others(4): Show HG02165.hp1 NA18951.hp1 NA18964.hp2 NA18977.hp2 NA18981.hp2 NA18986.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0024 a0002c0002t0001g0160 a0002c0002t0001g0162 others(3): Show a0002c0002t0001g0024 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0002g0161	7	303	0.0231	-85	c.278 others(102): Show c.2787+343_2787+427delTATATCATATATAATATAATATATAAAA TATATAATATATTATATCATATATAATATAATATATAAAATATATAATAT ATTATAT	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FBN3_chr19_8060402_8154592	8101588	CCCCAGCC others(78): Show CCCCAGCCCAGGAGGTCTATGGTATCTCTAACCAGCTGTGCTTTCCTCCC TGGCCTGGGACATTTACCGACCCCCTCCCACCCTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0056 a0056	a0056c0203 a0056c0203	a0056c0203t0001 a0056c0203t0001	a0056c0203t0001g0173 a0056c0203t0001g0173	1	380	0.0026	-85	c.509 others(102): Show c.5090-701_5090-617delATAGGGTGGGAGGGGGTCGGTAAATGTC CCAGGCCAGGGAGGAAAGCACAGCTGGTTAGAGATACCATAGACCTCCTG GGCTGGG	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	40/63			chr19	TogoVar
FBXO5_chr6_152965535_152988041	152972827	CCTTTGTT others(78): Show CCTTTGTTACTTTAGACATTCTATTTCTAGGAAGAATCCAAGAAATAAAT GTTGAGTTGAGATTTCTTTATTTTTGAATGTGGTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01070.hp2 others(37): Show HG00423.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03654.hp1 NA18948.hp2 NA18963.hp1 NA18977.hp2 NA18988.hp1 NA19007.hp2 NA19043.hp2 NA19072.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0002 a0003c0003t0004 a0003c0003t0006 others(2): Show a0003c0003t0002 a0003c0003t0004 a0003c0003t0006 a0003c0004t0002 a0003c0004t0007	a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0032 others(19): Show a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0069 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0004g0015 a0003c0003t0004g0025 a0003c0003t0006g0068 a0003c0004t0002g0041 a0003c0004t0002g0058 a0003c0004t0002g0059 a0003c0004t0007g0081	40	438	0.0913	-85	c.909 others(100): Show c.909+134_909+218delAAACCACATTCAAAAATAAAGAAATCTCAA CTCAACATTTATTTCTTGGATTCTTCCTAGAAATAGAATGTCTAAAGTAA CAAAG	FBXO5	ENSG00000112029.10	transcript	ENST00000229758.8	protein_coding	3/4			chr6	TogoVar
FER_chr5_108742897_109201841	108952536	AGTGTTGT others(78): Show AGTGTTGTATAGGGGATGGGGAATAACAGATCTTTGAGCTTCCCTTCCTA CCTACAAAGGAACTAAGAAGCCTATAGAATTGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG02738.hp2 others(13): Show HG00140.hp2 HG00733.hp1 HG02738.hp2 HG03491.hp2 NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18990.hp1 NA18991.hp1 NA19001.hp2 NA19004.hp1 NA19056.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0014 a0002c0003 a0005c0014	a0002c0003t0003 a0002c0003t0042 a0002c0003t0045 others(2): Show a0002c0003t0003 a0002c0003t0042 a0002c0003t0045 a0002c0003t0051 a0005c0014t0003	a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0036 others(13): Show a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0036 a0002c0003t0003g0059 a0002c0003t0003g0062 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0068 a0002c0003t0003g0070 a0002c0003t0003g0072 a0002c0003t0003g0076 a0002c0003t0042g0063 a0002c0003t0045g0061 a0002c0003t0051g0016 a0005c0014t0003g0069	16	138	0.1159	-85	c.133 others(104): Show c.1330-2189_1330-2105delTTGTATAGGGGATGGGGAATAACAGA TCTTTGAGCTTCCCTTCCTACCTACAAAGGAACTAAGAAGCCTATAGAAT TGAAGTGTG	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGD6_chr12_95071749_95222467	95148848	TTATATAT others(78): Show TTATATATATTATATAAGATATAGCATATATTATATATATTATATAAGAT ATAGCATATATTATATATATTATATAAGATATAGCA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp2 HG02723.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0040 a0001c0007t0018 a0001c0003t0040 a0001c0007t0018	a0001c0003t0040g0147 a0001c0007t0018g0109 a0001c0003t0040g0147 a0001c0007t0018g0109	2	384	0.0052	-85	c.268 others(104): Show c.2685+3878_2685+3962delTGCTATATCTTATATAATATATATAA TATATGCTATATCTTATATAATATATATAATATATGCTATATCTTATATA ATATATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FRK_chr6_115926149_116065891	115958680	GAAAGAAA others(78): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0189 a0001c0001t0043g0189	1	274	0.0037	-85	c.800 others(102): Show c.800-2155_800-2071delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
GABRG3_chr15_26966181_27546984	27306769	TACAATAT others(78): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAACATACAATATAAACATGTTTATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0019 a0001c0005t0005 a0001c0003t0019 a0001c0005t0005	a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0003t0019g0064 a0001c0005t0005g0045	2	92	0.0217	-85	c.271 others(104): Show c.271-20038_271-19954delCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTAT ATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306798	TACAATAT others(78): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAACATACAATATAAACATGTTTATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG03471.hp2 others(1): Show HG01099.hp1 HG01891.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 others(1): Show a0001c0001 a0001c0004 a0001c0014 a0001c0016	a0001c0001t0028 a0001c0004t0011 a0001c0014t0024 others(1): Show a0001c0001t0028 a0001c0004t0011 a0001c0014t0024 a0001c0016t0001	a0001c0001t0028g0054 a0001c0004t0011g0078 a0001c0014t0024g0057 others(1): Show a0001c0001t0028g0054 a0001c0004t0011g0078 a0001c0014t0024g0057 a0001c0016t0001g0074	4	92	0.0435	-85	c.271 others(104): Show c.271-20009_271-19925delCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTAT ATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308187	TATATAAA others(78): Show TATATAAACATGTTTATATATCCAAACATATATAAACATGTTTATATATC CAAACATATATAAACATACGTTTATATATAAACATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02145.hp1 HG02809.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0003t0019 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0019 a0001c0005t0005 a0001c0009t0010	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0009t0010g0051	6	92	0.0652	-85	c.271 others(104): Show c.271-18611_271-18527delGTTTATATATCCAAACATATATAAAC ATGTTTATATATCCAAACATATATAAACATACGTTTATATATAAACATAA TATAAACAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292375	TATATCAG others(78): Show TATATCAGATATATATCGTATCTCTGATATATATATCAGATATATCGTAT CTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	366	0.0027	-85	c.220 others(102): Show c.220+7299_220+7383delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GEMIN4_chr17_739421_757264	755389	GCTAAATG others(78): Show GCTAAATGTAGATTTACTGAGCTGAATGCATAACTGACTGTTCGTCTGCC CGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	434	0.0023	-85	c.-33 others(96): Show c.-3332_-3248delTGCTCACCAAATCTACATGTTACAGTGAAAGGAG CGGGCAGACGAACAGTCAGTTATGCATTCAGCTCAGTAAATCTACATTTA G	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding		3126		chr17	TogoVar
GEMIN5_chr5_154882411_154943211	154936357	CAGTGAGC others(78): Show CAGTGAGCCAAGATCCCGCCATTGCACTCCAGCCTGGGCGACAGAGCCAG ACTCCGTCTCAAAAAAAAAAAAAAAAGTAATTAATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show 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 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.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 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0001c0015 others(27): Show a0001c0001 a0001c0004 a0001c0015 a0001c0026 a0001c0030 a0001c0031 a0002c0002 a0002c0008 a0002c0011 a0002c0019 a0002c0022 a0003c0007 a0003c0009 a0003c0016 a0003c0024 a0004c0006 a0005c0027 a0005c0028 a0006c0012 a0007c0021 a0007c0023 a0008c0010 a0009c0014 a0010c0033 a0011c0029 a0012c0020 a0014c0013 a0015c0025 a0016c0032 a0017c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0004t0005 a0001c0015t0001 a0001c0026t0001 a0001c0030t0002 a0001c0031t0001 a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 a0002c0019t0001 a0002c0022t0001 a0003c0007t0001 a0003c0009t0001 a0003c0016t0008 a0003c0024t0001 a0004c0006t0001 a0005c0027t0001 a0005c0028t0001 a0006c0012t0002 a0007c0021t0001 a0007c0023t0001 a0008c0010t0001 a0009c0014t0001 a0010c0033t0001 a0011c0029t0002 a0012c0020t0001 a0014c0013t0001 a0015c0025t0001 a0016c0032t0001 a0017c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(265): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0006g0216 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0005g0039 a0001c0015t0001g0211 a0001c0026t0001g0180 a0001c0030t0002g0279 a0001c0031t0001g0215 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0008t0001g0064 a0002c0008t0001g0065 a0002c0008t0001g0066 a0002c0011t0001g0048 a0002c0011t0001g0059 a0002c0019t0001g0046 a0002c0022t0001g0094 a0003c0007t0001g0044 a0003c0007t0001g0045 a0003c0007t0001g0074 a0003c0007t0001g0075 a0003c0009t0001g0040 a0003c0009t0001g0041 a0003c0009t0001g0042 a0003c0016t0008g0289 a0003c0024t0001g0043 a0004c0006t0001g0032 a0004c0006t0001g0275 a0004c0006t0001g0276 a0004c0006t0001g0277 a0004c0006t0001g0278 a0005c0027t0001g0105 a0005c0028t0001g0248 a0006c0012t0002g0222 a0006c0012t0002g0223 a0007c0021t0001g0067 a0007c0023t0001g0049 a0008c0010t0001g0033 a0008c0010t0001g0034 a0009c0014t0001g0270 a0010c0033t0001g0071 a0011c0029t0002g0231 a0012c0020t0001g0072 a0014c0013t0001g0120 a0015c0025t0001g0225 a0016c0032t0001g0112 a0017c0017t0001g0050	313	338	0.9260	-85	c.328 others(100): Show c.328-420_328-336delTATTAATTACTTTTTTTTTTTTTTTTGAGA CGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGGGATCTTGGC TCACT	GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	2/27			chr5	TogoVar
GET4_chr7_871554_901436	890329	TCAGGACG others(78): Show TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGTGAGCGGGTGTTAGGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 HG03130.hp1 others(1): Show HG02723.hp2 HG03098.hp2 HG03130.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0010t0025 a0001c0010t0026 others(1): Show a0001c0002t0002 a0001c0010t0025 a0001c0010t0026 a0001c0010t0028	a0001c0002t0002g0043 a0001c0010t0025g0053 a0001c0010t0026g0052 others(1): Show a0001c0002t0002g0043 a0001c0010t0025g0053 a0001c0010t0026g0052 a0001c0010t0028g0051	4	384	0.0104	-85	c.467 others(100): Show c.467-597_467-513delAGGACGGGGTCTGGGAGTGGAGGGAGTGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGTGAGCGGGTGTT AGGAC	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGT1_chr22_24598193_24633996	24605549	ATATATTA others(78): Show ATATATTATATAATATTATATAATGTGTATTATATATATAATATTATATA ATGTGTATTATATATATAATATTATATAATGTGTAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0261 a0002c0004t0010g0261	1	426	0.0024	-85	c.-42 others(104): Show c.-429+2028_-429+2112delTATATAATATTATATAATGTGTATTA TATATATAATATTATATAATGTGTATTATATATATAATATTATATAATGT GTATTATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GLOD4_chr17_754330_787280	755389	GCTAAATG others(78): Show GCTAAATGTAGATTTACTGAGCTGAATGCATAACTGACTGTTCGTCTGCC CGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	420	0.0024	-85	c.46 others(96): Show c.4699_*4783delTGCTCACCAAATCTACATGTTACAGTGAAAGGAG CGGGCAGACGAACAGTCAGTTATGCATTCAGCTCAGTAAATCTACATTTA G	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding		3940		chr17	TogoVar
GOLGA8A_chr15_34374068_34442808	34437425	CCGCCGCC others(78): Show CCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGC CGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03139.hp2 HG03453.hp1	a0006 a0014 a0006 a0014	a0006c0011 a0014c0025 a0006c0011 a0014c0025	a0006c0011t0097 a0014c0025t0127 a0006c0011t0097 a0014c0025t0127	a0006c0011t0097g0154 a0014c0025t0127g0243 a0006c0011t0097g0154 a0014c0025t0127g0243	2	245	0.0082	-85	c.-13 others(96): Show c.-1324_-1240delCGGCGAGGACGGCGGCGCGGCGAGGACGGCGGCG CGGCGAGGACGGCGGCGCGGCGAGGACGGCGGCGCGGCGAGGACGGCGGC G	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25	47735		chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45024177	GTGTGTGT others(78): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGACTGAGTCTCAA TCTTCAAGTGTTTTTGCTTGGTATCCCCTAAAACTC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18971.hp1 NA19070.hp2 NA18969.hp1 NA18971.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0259 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0259	3	348	0.0086	-85	c.805 others(102): Show c.805-3576_805-3492delTTTGAGACTGAGTCTCAATCTTCAAGTG TTTTTGCTTGGTATCCCCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRK7_chr3_141758408_141824352	141771409	GTACTTAG others(78): Show GTACTTAGAGAGTAGAATAATAAACACTAAAGTCTAGGAAGGATGGGAGG GTAAGAAGGTGGGAGCAGGGGTAAGGGATAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG00733.hp1 others(44): Show HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01928.hp1 HG01975.hp1 HG02015.hp1 HG02080.hp1 HG02132.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG03041.hp2 HG03139.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18982.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19043.hp1 NA19056.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0004 a0003c0003 a0003c0012 others(3): Show a0001c0004 a0003c0003 a0003c0012 a0004c0005 a0004c0006 a0005c0013	a0001c0004t0006 a0001c0004t0017 a0001c0004t0022 others(11): Show a0001c0004t0006 a0001c0004t0017 a0001c0004t0022 a0001c0004t0027 a0001c0004t0028 a0001c0004t0029 a0003c0003t0004 a0003c0003t0012 a0003c0003t0033 a0003c0012t0004 a0004c0005t0014 a0004c0005t0032 a0004c0006t0014 a0005c0013t0006	a0001c0004t0006g0001 a0001c0004t0006g0002 a0001c0004t0006g0038 others(42): Show a0001c0004t0006g0001 a0001c0004t0006g0002 a0001c0004t0006g0038 a0001c0004t0006g0039 a0001c0004t0006g0040 a0001c0004t0006g0041 a0001c0004t0006g0045 a0001c0004t0006g0046 a0001c0004t0006g0047 a0001c0004t0006g0049 a0001c0004t0006g0050 a0001c0004t0006g0052 a0001c0004t0017g0044 a0001c0004t0017g0051 a0001c0004t0022g0068 a0001c0004t0022g0334 a0001c0004t0027g0048 a0001c0004t0028g0037 a0001c0004t0029g0043 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0020 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0031 a0003c0003t0004g0032 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0012g0340 a0003c0003t0012g0341 a0003c0003t0033g0016 a0003c0012t0004g0030 a0004c0005t0014g0011 a0004c0005t0014g0013 a0004c0005t0032g0014 a0004c0006t0014g0012 a0005c0013t0006g0042	47	358	0.1313	-85	c.-21 others(104): Show c.-214-3136_-214-3052delAGGAAGGATGGGAGGGTAAGAAGGTG GGAGCAGGGGTAAGGGATAAGAAATTACTTAGAGAGTAGAATAATAAACA CTAAAGTCT	GRK7	ENSG00000114124.3	transcript	ENST00000682958.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSG1L_chr16_27782528_28068714	27888476	CTCTTTCC others(78): Show CTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01993.hp1 others(7): Show HG00280.hp1 HG01106.hp1 HG01993.hp1 HG02165.hp1 HG03486.hp1 HG04184.hp2 NA18522.hp1 NA18980.hp1 NA19010.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0017 a0001c0001t0044 a0001c0002t0001 a0001c0002t0034	a0001c0001t0002g0047 a0001c0001t0003g0082 a0001c0001t0003g0125 others(7): Show a0001c0001t0002g0047 a0001c0001t0003g0082 a0001c0001t0003g0125 a0001c0001t0003g0206 a0001c0001t0008g0061 a0001c0001t0017g0121 a0001c0001t0044g0156 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0034g0235	10	240	0.0417	-85	c.398 others(102): Show c.398-3923_398-3839delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAAGA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GYPB_chr4_143991104_144024380	143991872	GGGGAAAC others(78): Show GGGGAAACCACCGCAATGATTCAAGTACCTCCCACTGGGTTCCTCCCATG ACATGTGGGGATTATTGGAACTACAATTCAAGATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0119 a0009c0009t0001g0119	1	434	0.0023	-85	c.43 others(96): Show c.4342_*4426delTCATCTTGAATTGTAGTTCCAATAATCCCCACAT GTCATGGGAGGAACCCAGTGGGAGGTACTTGAATCATTGCGGTGGTTTCC C	GYPB	ENSG00000250361.10	transcript	ENST00000502664.6	protein_coding		4231		chr4	TogoVar
HAUS1_chr18_46099385_46133333	46112924	GTATATAT others(78): Show GTATATATTCCATATAATATATATAATATATATAATATGTATATATTCCA TATTATATATATAATATATATTCCATATATATGGAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG02818.hp2 others(4): Show HG01496.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041	7	372	0.0188	-85	c.206 others(102): Show c.206-5249_206-5165delTCCATATAATATATATAATATATATAAT ATGTATATATTCCATATTATATATATAATATATATTCCATATATATGGAA TATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HBG1_chr11_5243269_5254857	5253226	GCTTGCAG others(78): Show GCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAG CTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	433	0.0023	-85	c.-35 others(96): Show c.-3507_-3423delGAGTGGCCAGTGCCCTGTCCTCCAGATACCACTG AGCTCACTGCCCATGATGCAGAGCTTTCAAGGATAGGCTTTATTCTGCAA G	HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding		3370		chr11	TogoVar
HBQ1_chr16_175459_186179	186034	AGGAATAC others(78): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	384	0.0052	-85	c.49 others(96): Show c.4927_*5011delGGAATACGGACACGGAGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG G	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4856		chr16	TogoVar
HDGFL1_chr6_22564566_22576666	22575610	TGTCAAAA others(78): Show TGTCAAAATGAGGTATCACTTTAATGTGTTCCCGTAAGACCTTGGTTTTA CCTTTATAGTATCTACTGCACTCACCTATAGTTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	432	0.0023	-85	c.52 others(96): Show c.5280_*5364delGTCAAAATGAGGTATCACTTTAATGTGTTCCCGT AAGACCTTGGTTTTACCTTTATAGTATCTACTGCACTCACCTATAGTTAT C	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding		3945		chr6	TogoVar
HMOX1_chr22_35376096_35399207	35389310	TCTTTCTT others(78): Show TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0035 a0001c0001t0001g0039	2	384	0.0052	-85	c.637 others(100): Show c.637-542_637-458delCTTTCTTTCTTTCTTTCTTCTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
IDUA_chr4_982044_1009564	999798	CCCATCTG others(78): Show CCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGC CTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp2 NA19030.hp2 HG01255.hp1 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0183 a0001c0002t0001g0323 a0001c0002t0001g0170 a0001c0002t0001g0183 a0001c0002t0001g0323	3	426	0.0070	-85	c.300 others(100): Show c.300-811_300-727delATCTGCAAGTGCAGTGGCAGGGCGGCCCCC TTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATT CAGCC	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IFT52_chr20_43585937_43652299	43622715	TTATGTAA others(78): Show TTATGTAAATATAAATATATACATATTTTTATGTAAATATAAATATATAC AAATTGTGTGTAAATATAAATATATACATATTTTTA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0020 a0005c0010t0001g0020	1	300	0.0033	-85	c.769 others(102): Show c.769-1142_769-1058delAAATATAAATATATACAAATTGTGTGTA AATATAAATATATACATATTTTTATATGTAAATATAAATATATACATATT TTTATGT	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IL1RAPL2_chrX_104561199_105772829	104884053	AGTAAGGG others(78): Show AGTAAGGGCCGCTAAATCCGATTTTTCTCAGTCCTCTTTGTGGTCTAGGA GGACAGGCAAGGGTGCAGGTTTTTGAGAATGCATTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	141	0.0071	-85	c.82+ others(104): Show c.82+225068_82+225152delGCTAAATCCGATTTTTCTCAGTCCTC TTTGTGGTCTAGGAGGACAGGCAAGGGTGCAGGTTTTTGAGAATGCATTG GTAAGGGCC	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105447172	TATATATA others(78): Show TATATATATAAATATAAATATATATAAATATATATAAATATATATAAAAT ATATATAAATATATATATAAATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG03579.hp1 others(3): Show HG02965.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0135 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0004g0122	6	141	0.0426	-85	c.698 others(104): Show c.698-37125_698-37041delAATATATATAAATATATATAAATATA TATAAAATATATATAAATATATATATAAATATAAATATATATAAATATAT ATAAATATA	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL2RA_chr10_6005689_6067367	6058685	TTATTTTT others(78): Show TTATTTTTGAGTCTAGAGGATAAAGATTTGATCACAGAATTCCTAGAATG AAAGAAAGATGATCAAGGGACATACAAGCTCTCAGA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0333 a0001c0001t0025g0333	1	414	0.0024	-85	c.64+ others(100): Show c.64+3318_64+3402delTCTGAGAGCTTGTATGTCCCTTGATCATCT TTCTTTCATTCTAGGAATTCTGTGATCAAATCTTTATCCTCTAGACTCAA AAATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL33_chr9_6210807_6262983	6218842	CATATATA others(78): Show CATATATATATATGTTCTCCATATATATATATGTTCTCCATATATATATA TGTTCTCCATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02630.hp1 others(1): Show HG01243.hp1 HG02055.hp1 HG02630.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0001t0001 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0002t0002g0054 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0002t0002g0054 a0001c0002t0010g0079	4	362	0.0111	-85	c.-12 others(102): Show c.-12+3003_-12+3087delGTTCTCCATATATATATATGTTCTCCAT ATATATATATGTTCTCCATATATATATATATATATATATATATATATATA TATATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1360251	TTTCTCCC others(78): Show TTTCTCCCTCCATCTTTCTCTCTCTCTCCTGGTCTCTATCTCCCCCTCTC CCTGTCTCTCTGTGTCTGTCTCTGTATCTCTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	115	0.0087	-85	c.759 others(102): Show c.759+1367_759+1451delCTCCCTCCATCTTTCTCTCTCTCTCCTG GTCTCTATCTCCCCCTCTCCCTGTCTCTCTGTGTCTGTCTCTGTATCTCT CTCCCTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5E_chr9_136423619_136444845	136431514	GCCCCCCC others(78): Show GCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCC AGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	382	0.0026	-85	c.154 others(102): Show c.1549+225_1549+309delGCGGGCGTGGAGGGAGATGAGGAAAGGT GAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAAAGGTGAGGGCCT GGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IQCA1_chr2_236319151_236512476	236491142	GTATATAT others(78): Show GTATATATATACACACAGTATATATATATATATATATATACACACAGTAT ATATATATATATATATATATACACACAGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01099.hp2 others(16): Show HG00738.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02896.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0010 others(1): Show a0001c0001 a0002c0002 a0004c0010 a0008c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0004c0010t0005 a0008c0015t0001	a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0083 others(16): Show a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0007g0022 a0002c0002t0001g0028 a0002c0002t0001g0072 a0002c0002t0001g0100 a0002c0002t0001g0130 a0002c0002t0001g0200 a0002c0002t0002g0135 a0002c0002t0008g0023 a0004c0010t0005g0199 a0008c0015t0001g0050	19	208	0.0914	-85	c.456 others(102): Show c.456+2541_456+2625delTATATATACTGTGTGTATATATATATAT ATATATATATACTGTGTGTATATATATATATATATATATACTGTGTGTAT ATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2616153	CGAGCCAT others(78): Show CGAGCCATTGCACTCCAGCCTGGGCAAGAAGAGCAAAACTCCGTCTAAAT AAATAAATAAAATTTTATTTTGGTGGAGGTTGCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	416	0.0024	-85	c.59 others(96): Show c.5992_*6076delGAGCCATTGCACTCCAGCCTGGGCAAGAAGAGCA AAACTCCGTCTAAATAAATAAATAAAATTTTATTTTGGTGGAGGTTGCAG T	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding		1426		chr7	TogoVar

Search by Variant

Search

Search Results