Joint Open Genome and Omics Platform (JoGo)

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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
PSD3_chr8_18522303_19018703	18594182	ATATTATT others(50): Show ATATTATTATATACATATTATATAATATATATTATTATATATATTATATA ATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19005.hp1 NA18998.hp2 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0081 a0003c0008t0024 a0001c0002t0081 a0003c0008t0024	a0001c0002t0081g0223 a0003c0008t0024g0095 a0001c0002t0081g0223 a0003c0008t0024g0095	2	228	0.0088	-57	c.248 others(76): Show c.2481+6125_2481+6181delATATATATTATATAATATATATAATA ATATATATTATATAATATGTATATAATAATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTCD1_chr7_99411739_99443798	99434021	CAGCCTGG others(50): Show CAGCCTGGGTGACGGTACAAGACTCCATCTCAAAAAAAAAAAAAAAACAA AAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(85): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01099.hp1 HG01192.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02132.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02738.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0016 a0001c0002 a0006c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0002t0031 a0001c0002t0037 a0006c0016t0001	a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0002g0003 others(49): Show a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0009g0039 a0001c0002t0009g0194 a0001c0002t0009g0195 a0001c0002t0009g0199 a0001c0002t0015g0174 a0001c0002t0015g0200 a0001c0002t0017g0250 a0001c0002t0017g0251 a0001c0002t0018g0044 a0001c0002t0020g0189 a0001c0002t0023g0185 a0001c0002t0026g0202 a0001c0002t0031g0207 a0001c0002t0037g0177 a0006c0016t0001g0188	88	380	0.2316	-57	c.454 others(72): Show c.454-660_454-604delTTGTTTTTTTGTTTTTTTTTTTTTTTTGAG ATGGAGTCTTGTACCGTCACCCAGGCT	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding	2/7			chr7	TogoVar
PTDSS2_chr11_445279_496399	480199	GGCAGCCT others(50): Show GGCAGCCTCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCA TGCGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	-57	c.435 others(74): Show c.435+1104_435+1160delTGCAGCCTCTTCCCGCCCTGCACAGTGC CTCTGAGGTTCACCCAGGATCATGCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	480256	TGCAGCCT others(50): Show TGCAGCCTCTTCCCGCCCTGCACAGTGCCTCTGAGGTTCACCCAGGATCA TGCGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02723.hp1 others(1): Show HG02486.hp2 HG02559.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0168 a0001c0006t0001g0169 others(1): Show a0001c0006t0001g0167 a0001c0006t0001g0168 a0001c0006t0001g0169 a0001c0006t0001g0170	4	346	0.0116	-57	c.435 others(74): Show c.435+1315_435+1371delCCCAGGATCATGCGGTGGGCAGCCTCTT CCCGCCCTGCACAGTGCCTCTGAGGTTCA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61738259	TATATATA others(50): Show TATATATATATATATATATACATATATATATATATATATATATATATATA TATACATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02027.hp2 HG02040.hp2 others(4): Show HG01099.hp2 HG02027.hp2 HG02040.hp2 HG02683.hp2 HG02698.hp2 HG03669.hp2 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0008 a0002c0003t0014 others(1): Show a0001c0001t0001 a0002c0003t0008 a0002c0003t0014 a0003c0004t0003	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0044 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0073 a0002c0003t0008g0019 a0002c0003t0014g0007 a0003c0004t0003g0008	7	94	0.0745	-57	c.86- others(74): Show c.86-10618_86-10562delATATATATATATATATATACATATATAT ATATATATATATATATATATATATACATA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29			chr3	TogoVar
PVR_chr19_44638910_44671162	44667832	TTTATATA others(50): Show TTTATATATAATATATACAATATATATAAATTATATATAATATATAAATA TATATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01106.hp1 others(12): Show HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01516.hp1 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG03239.hp2 HG03540.hp1 HG06807.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0043 a0001c0001t0090 a0002c0002t0036	a0001c0001t0002g0021 a0001c0001t0002g0158 a0001c0001t0005g0044 others(8): Show a0001c0001t0002g0021 a0001c0001t0002g0158 a0001c0001t0005g0044 a0001c0001t0007g0013 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0008g0169 a0001c0001t0043g0013 a0001c0001t0090g0103 a0002c0002t0036g0139	15	412	0.0364	-57	c.60 others(68): Show c.6022_*6078delTTATATATAATATATACAATATATATAAATTATA TATAATATATAAATATATATAAA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1671		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132417345	CGCTGGGG others(50): Show CGCTGGGGTTCCATGGAGGAACTGGGCCTGCCGCCCCGGCCTCACCTGCT GCCCGCAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	374	0.0027	-57	c.31 others(66): Show c.310_*366delTCCATGGAGGAACTGGGCCTGCCGCCCCGGCCTCAC CTGCTGCCCGCATGCTGGGGT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	3/3	11081	INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132419538	AGGGGCCT others(50): Show AGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCT CCTGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0218 a0002c0003t0001g0218	1	374	0.0027	-57	c.24 others(68): Show c.2495_*2551delGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGC CTGGAGGAGGGGTCTCCTGGGGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1680		chr10	TogoVar
RAB3GAP1_chr2_135047292_135175710	135081328	ATATATAT others(50): Show ATATATATATATATATATATATATATATATATATACACACACGTGTGTGT GTGTATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0246 a0001c0004t0013g0246	1	280	0.0036	-57	c.151 others(74): Show c.151-9669_151-9613delTATATATATATATATATATATATATATA TATATACACACACGTGTGTGTGTGTATAT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23			chr2	TogoVar
RAB6C_chr2_129974666_129987738	129985669	GCTCTTTA others(50): Show GCTCTTTATGAGTTTTTGGTTTTTTTTCAGTTAAATGAAATAACTTCTTT TTTTGTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	-57	c.47 others(68): Show c.4790_*4846delCTCTTTATGAGTTTTTGGTTTTTTTTCAGTTAAA TGAAATAACTTCTTTTTTTGTTT	RAB6C	ENSG00000222014.6	transcript	ENST00000410061.4	protein_coding		2932		chr2	TogoVar
RABL2B_chr22_50762506_50788636	50763738	TATTAGCA others(50): Show TATTAGCACTTCATTTCTTTGTATTTTTGAGTAATATTTCATCGTGTGGA TATACCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02257.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0124 a0001c0001t0013g0123 a0001c0001t0013g0124	2	476	0.0042	-57	c.49 others(68): Show c.4981_*5037delGTGGTATATCCACACGATGAAATATTACTCAAAA ATACAAAGAAATGAAGTGCTAAT	RABL2B	ENSG00000079974.19	transcript	ENST00000691320.1	protein_coding		3767		chr22	TogoVar
RAD17_chr5_69364818_69419801	69379622	TTATTCTA others(50): Show TTATTCTATAAATTTTTTTTGTATTTAAAAAAAAATTTTTAAGCTTCTTT TAAAATTA	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0352 a0010c0011t0002g0352	1	359	0.0028	-57	c.352 others(74): Show c.352-2278_352-2222delTATTCTATAAATTTTTTTTGTATTTAAA AAAAAATTTTTAAGCTTCTTTTAAAATTA	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RASA2_chr3_141482027_141620344	141610410	ATTTATAT others(50): Show ATTTATATTTATATATTATATATTTATATTTATATATTATATATTTATAT TTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0105 a0001c0002t0001g0106	2	280	0.0071	-57	c.251 others(74): Show c.2519+346_2519+402delTTATATTTATATATTATATATTTATATT TATATATTATATATTTATATTTATATATT	RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114099640	CCACAGCC others(50): Show CCACAGCCCCCCCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAG CCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	-57	c.56- others(74): Show c.56-25860_56-25804delTGTGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGGGGGGGCTGGGGGGGCTGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180113039	CGGGGATG others(50): Show CGGGGATGGACGGAGGGATCCGGGCTGGACGGAGGGACCGGGGATGGACA GAGGGACT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0351 a0001c0002t0008g0351	1	370	0.0027	-57	c.117 others(76): Show c.1179+1350_1179+1406delAGTCCCTCTGTCCATCCCCGGTCCCT CCGTCCAGCCCGGATCCCTCCGTCCATCCCC	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113079	GGGATGGA others(50): Show GGGATGGACAGAGGGACTGGGGATGGACGGAGGGACCGGGGATGGACGGA GGGATCGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02809.hp2 others(7): Show HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0211 a0001c0001t0001g0311 a0001c0001t0006g0038 others(7): Show a0001c0001t0001g0211 a0001c0001t0001g0311 a0001c0001t0006g0038 a0001c0001t0008g0347 a0001c0001t0008g0359 a0001c0001t0009g0079 a0001c0001t0011g0088 a0001c0001t0011g0090 a0001c0001t0024g0010 a0001c0002t0001g0324	10	370	0.0270	-57	c.117 others(76): Show c.1179+1310_1179+1366delTCGATCCCTCCGTCCATCCCCGGTCC CTCCGTCCATCCCCAGTCCCTCTGTCCATCC	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113250	AGGATGGA others(50): Show AGGATGGACGGAGGGACCGAGGATGGACGGAGGGATCCAGGATGGACGGA GGGACCGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02717.hp2 others(9): Show HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0080	a0001c0002t0001g0206 a0001c0002t0001g0310 a0001c0002t0001g0323 others(9): Show a0001c0002t0001g0206 a0001c0002t0001g0310 a0001c0002t0001g0323 a0001c0002t0008g0340 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0346 a0001c0002t0008g0351 a0001c0002t0008g0360 a0001c0002t0011g0101 a0001c0002t0011g0102 a0001c0002t0080g0362	12	370	0.0324	-57	c.117 others(76): Show c.1179+1139_1179+1195delCCGGTCCCTCCGTCCATCCTGGATCC CTCCGTCCATCCTCGGTCCCTCCGTCCATCC	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113724	CCGGGCTG others(50): Show CCGGGCTGGACGGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACG GAGGGATT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0100 a0001c0002t0020g0100	1	370	0.0027	-57	c.117 others(74): Show c.1179+665_1179+721delAATCCCTCCGTCCATCCCCGGTCCCTCC GTCCATCCCCGGTCCCTCCGTCCAGCCCG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASSF9_chr12_85795703_85841409	85803226	AAACCTGC others(50): Show AAACCTGCACTAAAAGTATGCAAAAGAATAAAAGAGAAGAAATGAGAAGG ATTGGGAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0212 a0001c0001t0040g0212	1	344	0.0029	-57	c.14 others(68): Show c.1419_*1475delGTCCCAATCCTTCTCATTTCTTCTCTTTTATTCT TTTGCATACTTTTAGTGCAGGTT	RASSF9	ENSG00000198774.5	transcript	ENST00000361228.5	protein_coding	2/2	1419		chr12	TogoVar
RBM19_chr12_113817057_113971325	113840016	ATTCCCAG others(50): Show ATTCCCAGTCCCTCTGAGGCCAGCCATACGGGGACCCAGGTAATGCAATT ACCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19002.hp2 HG01081.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0103 a0001c0001t0002g0109	2	356	0.0056	-57	c.278 others(76): Show c.2785+4595_2785+4651delCGCCTGGTAATTGCATTACCTGGGTC CCCGTATGGCTGGCCTCAGAGGGACTGGGAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM33_chr7_155639661_155786480	155784943	CTCCCAAA others(50): Show CTCCCAAAGGGCTGGGATGACAGGCGTGTGCCTTCCAGTGCTGCTCCTGG CTTCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0127 a0002c0001t0002g0127	1	306	0.0033	-57	c.99 others(68): Show c.9903_*9959delTCCCAAAGGGCTGGGATGACAGGCGTGTGCCTTC CAGTGCTGCTCCTGGCTTCGGCT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding		3464		chr7	TogoVar
RFXANK_chr19_19187258_19206866	19187560	GACAGAGT others(50): Show GACAGAGTCTTGCTCTGTCATCAGGCTGGAGTGCAGTGGTGCAATCTCGG CTCACCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	432	0.0023	-57	c.-51 others(68): Show c.-5143_-5087delACAGAGTCTTGCTCTGTCATCAGGCTGGAGTGCA GTGGTGCAATCTCGGCTCACCAC	RFXANK	ENSG00000064490.14	transcript	ENST00000303088.9	protein_coding		4697		chr19	TogoVar
RGS7_chr1_240770514_241362205	241160450	AAACTGGA others(50): Show AAACTGGACTCATCCCCTGAACGGTGTGTGGAATAAGGTGAAACACGTAG CAATCAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02572.hp1 others(4): Show HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0060 a0001c0001t0001g0100 a0001c0001t0002g0032 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0100 a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0106 a0001c0001t0003g0006 a0001c0001t0008g0110	7	112	0.0625	-57	c.79- others(74): Show c.79-61745_79-61689delCTTGATTGCTACGTGTTTCACCTTATTC CACACACCGTTCAGGGGATGAGTCCAGTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDL3_chr17_32260832_32329659	32276683	GTACTCCA others(50): Show GTACTCCAGCCCTAGCACAGTACTCCGGCCCTAGCACCTTACTCCGGCCC TAGCACCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	306	0.0033	-57	c.136 others(74): Show c.136-7912_136-7856delAGCCCTAGCACAGTACTCCGGCCCTAGC ACCTTACTCCGGCCCTAGCACCTTACTCC	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RILP_chr17_1641150_1654866	1643238	TCCCCGCC others(50): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGCCCGCCCCGCCCACC GGTGTCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	375	0.0027	-57	c.31 others(68): Show c.3147_*3203delCGGACACCGGTGGGCGGGGCGGGCACCGGTGGGC GGGGCGGACACCGGTGGGCGGGG	RILP	ENSG00000167705.12	transcript	ENST00000301336.7	protein_coding		2911		chr17	TogoVar
RILP_chr17_1641150_1654866	1643272	GCCCGCCC others(50): Show GCCCGCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGTCCGCCCCGCC CACCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0071 a0004c0020t0001g0071	1	375	0.0027	-57	c.31 others(68): Show c.3113_*3169delGACAGGTGGGCGGGGCGGACACCGGTGGGCGGGG CGGACACCGGTGGGCGGGGCGGG	RILP	ENSG00000167705.12	transcript	ENST00000301336.7	protein_coding		2877		chr17	TogoVar
RIMS1_chr6_71881550_72408145	72358036	GAAACAAT others(50): Show GAAACAATTCATTTTAAACAGTATCACCACCTTGTCTGTACAGCACAGTA GAGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG02145.hp2 others(4): Show HG01099.hp2 HG01168.hp2 HG02145.hp2 HG02293.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 others(3): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0024 a0001c0020t0009	a0001c0002t0006g0069 a0001c0002t0009g0037 a0001c0002t0009g0061 others(4): Show a0001c0002t0006g0069 a0001c0002t0009g0037 a0001c0002t0009g0061 a0001c0002t0010g0027 a0001c0002t0011g0038 a0001c0002t0024g0059 a0001c0020t0009g0140	7	140	0.0500	-57	c.436 others(78): Show c.4366+24210_4366+24266delCATTTTAAACAGTATCACCACCTT GTCTGTACAGCACAGTAGAGTCCCAAAACAATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNASE7_chr14_21037362_21049233	21042351	AAGAGGCC others(50): Show AAGAGGCCCTCAGAGATCTGACAGCCTAGGAGTGCGTGGACACCACCTCA GCCCACTG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02559.hp1 others(2): Show HG01109.hp2 HG01884.hp2 HG02559.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0007g0001 a0001c0001t0008g0001	5	484	0.0103	-57	c.-12 others(65): Show c.-129_-73delAGGCCCTCAGAGATCTGACAGCCTAGGAGTGCGTGGA CACCACCTCAGCCCACTGAG	RNASE7	ENSG00000165799.5	transcript	ENST00000298690.5	protein_coding	1/2	583	INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF150_chr4_140854807_141138469	140999942	AAAGAAGA others(50): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGAAG AAAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0129 a0001c0001t0070g0129	1	184	0.0054	-57	c.485 others(76): Show c.485-32126_485-32070delCTTCTTTTCTTCTTTTCTTCTTTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF212_chr4_1066478_1118564	1118223	ATGTATCG others(50): Show ATGTATCGAATGGTCATATTTTACCTGTAAGTGAAATTAATGAAAGCCAT GATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	406	0.0025	-57	c.-48 others(68): Show c.-4816_-4760delATTTTATCATGGCTTTCATTAATTTCACTTACAG GTAAAATATGACCATTCGATACA	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		4660		chr4	TogoVar
RNF213_chr17_80255852_80403794	80313905	GTGGTGGT others(50): Show GTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01069.hp1 others(29): Show HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01106.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01884.hp1 HG01934.hp1 HG02040.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp2 NA18952.hp2 NA18960.hp2 NA18990.hp2 NA19030.hp1 NA19065.hp2 NA19081.hp1 NA19087.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0007 a0016 a0023 a0024 a0026 a0027 a0028 a0036 a0062 a0063 a0069 a0076 a0096	a0001c0001 a0001c0004 a0001c0072 others(19): Show a0001c0001 a0001c0004 a0001c0072 a0001c0076 a0001c0082 a0002c0002 a0003c0005 a0004c0045 a0007c0008 a0016c0018 a0023c0110 a0023c0112 a0024c0023 a0026c0034 a0027c0038 a0028c0080 a0036c0143 a0062c0109 a0063c0145 a0069c0103 a0076c0119 a0096c0097	a0001c0001t0001 a0001c0001t0052 a0001c0004t0007 others(25): Show a0001c0001t0001 a0001c0001t0052 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0072t0002 a0001c0076t0011 a0001c0082t0005 a0002c0002t0021 a0003c0005t0007 a0004c0045t0011 a0007c0008t0008 a0016c0018t0022 a0016c0018t0062 a0023c0110t0076 a0023c0112t0079 a0024c0023t0006 a0024c0023t0012 a0026c0034t0006 a0026c0034t0012 a0027c0038t0006 a0028c0080t0077 a0036c0143t0013 a0062c0109t0064 a0063c0145t0035 a0069c0103t0035 a0076c0119t0038 a0096c0097t0022	a0001c0001t0001g0160 a0001c0001t0052g0054 a0001c0004t0007g0047 others(29): Show a0001c0001t0001g0160 a0001c0001t0052g0054 a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0004t0014g0053 a0001c0072t0002g0038 a0001c0076t0011g0216 a0001c0082t0005g0231 a0002c0002t0021g0114 a0003c0005t0007g0274 a0004c0045t0011g0202 a0007c0008t0008g0078 a0007c0008t0008g0286 a0016c0018t0022g0025 a0016c0018t0022g0085 a0016c0018t0062g0024 a0023c0110t0076g0171 a0023c0112t0079g0276 a0024c0023t0006g0248 a0024c0023t0012g0246 a0026c0034t0006g0239 a0026c0034t0012g0237 a0027c0038t0006g0007 a0027c0038t0006g0013 a0028c0080t0077g0290 a0036c0143t0013g0177 a0062c0109t0064g0084 a0063c0145t0035g0174 a0069c0103t0035g0018 a0076c0119t0038g0247 a0096c0097t0022g0027	32	292	0.1096	-57	c.281 others(74): Show c.2811+745_2811+801delTGATGGTGGAGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314031	GTGGTGGT others(50): Show GTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0108 a0017c0108	a0017c0108t0006 a0017c0108t0006	a0017c0108t0006g0083 a0017c0108t0006g0083	1	292	0.0034	-57	c.281 others(74): Show c.2811+871_2811+927delTGATGGTGGAGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314562	ATGGTGGT others(50): Show ATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01952.hp2 HG01071.hp1 HG01952.hp2	a0001 a0003 a0001 a0003	a0001c0124 a0003c0005 a0001c0124 a0003c0005	a0001c0124t0002 a0003c0005t0007 a0001c0124t0002 a0003c0005t0007	a0001c0124t0002g0068 a0003c0005t0007g0058 a0001c0124t0002g0068 a0003c0005t0007g0058	2	292	0.0069	-57	c.281 others(76): Show c.2811+1402_2811+1458delTGGTGGTGGTGGTGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGTGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314799	ATGGTGGT others(50): Show ATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0053 a0001c0004t0014g0053	1	292	0.0034	-57	c.281 others(76): Show c.2811+1639_2811+1695delTGGTGAAGGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGTGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314884	TGGTGGAG others(50): Show TGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTG TTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0005 a0001c0082t0005	a0001c0082t0005g0231 a0001c0082t0005g0231	1	292	0.0034	-57	c.281 others(76): Show c.2811+1721_2811+1777delGGAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGTGGTGAAGGTGTTGGTGGAGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315018	GAGGTGAT others(50): Show GAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGT GGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0056 a0012c0012t0056	a0012c0012t0056g0192 a0012c0012t0056g0192	1	292	0.0034	-57	c.281 others(76): Show c.2811+1864_2811+1920delTGGTGAAGGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGAAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315715	ATGGTGGA others(50): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGACAGTGGT GATGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0028 a0028	a0028c0080 a0028c0080	a0028c0080t0077 a0028c0080t0077	a0028c0080t0077g0290 a0028c0080t0077g0290	1	292	0.0034	-57	c.281 others(76): Show c.2812-1466_2812-1410delAGGTACTGGAGGTGATGGTGGTGGTG GTGGAGGTGACAGTGGTGATGCTGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROCK2_chr2_11174759_11349636	11190318	TAAAAAAA others(50): Show TAAAAAAATCAATGAAGAATGATTCACAGGGCAAGGCCAGAAGTTTTTTA AAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0079	a0002c0002t0079g0319 a0002c0002t0079g0319	1	320	0.0031	-57	c.416 others(76): Show c.4163+1773_4163+1829delTTTTTTTTTAAAAAACTTCTGGCCTT GCCCTGTGAATCATTCTTCATTGATTTTTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	32/32			chr2	TogoVar
RPTOR_chr17_80539838_80971368	80665466	TCCTTTCC others(50): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCT TTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG03453.hp2 HG02055.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0020 a0001c0057 a0001c0068 a0001c0020 a0001c0057 a0001c0068	a0001c0020t0093 a0001c0057t0077 a0001c0068t0025 a0001c0020t0093 a0001c0057t0077 a0001c0068t0025	a0001c0020t0093g0034 a0001c0057t0077g0016 a0001c0068t0025g0104 a0001c0020t0093g0034 a0001c0057t0077g0016 a0001c0068t0025g0104	3	196	0.0153	-57	c.348 others(76): Show c.348+21658_348+21714delCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCATGTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP1B_chr21_43654560_43701079	43669069	GCAGTAAA others(50): Show GCAGTAAATGATCACCGTTACAGGGAGGGTGATTGACAAAGCCAACCTGG TGATGCCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02809.hp2 HG00438.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0010 a0002c0002t0002 a0001c0005t0010 a0002c0002t0002	a0001c0005t0010g0107 a0002c0002t0002g0044 a0001c0005t0010g0107 a0002c0002t0002g0044	2	372	0.0054	-57	c.131 others(72): Show c.131-796_131-740delACAGGGAGGGTGATTGACAAAGCCAACCTG GTGATGCCACAGTAAATGATCACCGTT	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1B_chr21_43654560_43701079	43669088	ACAGGGAG others(50): Show ACAGGGAGGGTGATTGACAAAGCCAACCTGGTGATGCCACAGTAAATGAT CACCGTTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp2 HG01261.hp1 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0268 a0001c0006t0005g0270 a0001c0006t0005g0268 a0001c0006t0005g0270	2	372	0.0054	-57	c.131 others(72): Show c.131-682_131-626delGCAGGGAGGGTGATTGACAAAGCCAACCTG GTGATGCCACAGTAAATGATCACCGTT	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr21	TogoVar
RTEL1_chr20_63653312_63701245	63669630	TGGACAGA others(50): Show TGGACAGACGTTTCACCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	60	0.0167	-57	c.699 others(74): Show c.699+2091_699+2147delACCAAGATGGGTGGAATGGCCAGTTAAC CACTGGGAGAGCATCCGGACAGACGTTTC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63669644	ACCAAGAT others(50): Show ACCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0023 a0001c0016t0002g0023	1	60	0.0167	-57	c.700 others(74): Show c.700-2171_700-2115delGCCAAGATGGGTGGAATGGCCAGTTAAC CACTGGGAGAGCATCCGGACAGACGTTTC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SAFB2_chr19_5581999_5627776	5585600	TTCAGGAG others(50): Show TTCAGGAGGCCACACCCACCTCCAGGAAGGGGTGCTCCGTGACATCTGAG ACACCGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	350	0.0029	-57	c.15 others(68): Show c.1586_*1642delCTCGGTGTCTCAGATGTCACGGAGCACCCCTTCC TGGAGGTGGGTGTGGCCTCCTGA	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding		1398		chr19	TogoVar
SAMD5_chr6_147503690_147575021	147514415	GTGGGATC others(50): Show GTGGGATCCTATACATTCCATCATGTAATGTTTAGACATGGTCATAAACA TTACATGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	364	0.0028	-57	c.459 others(74): Show c.459+5032_459+5088delGATCCTATACATTCCATCATGTAATGTT TAGACATGGTCATAAACATTACATGATGG	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCARA5_chr8_27864883_27997673	27918653	AAGGAAGA others(50): Show AAGGAAGATGAGGAGGAAAAGGAAGATGAGGAGGAAAAGGAAGATGAGGA GGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18906.hp2 HG02735.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0005 a0001c0008t0057 a0001c0002t0005 a0001c0008t0057	a0001c0002t0005g0216 a0001c0008t0057g0115 a0001c0002t0005g0216 a0001c0008t0057g0115	2	314	0.0064	-57	c.916 others(74): Show c.916+2861_916+2917delCCTTTTCCTCCTCATCTTCCTTTTCCTC CTCATCTTCCTTTTCCTCCTCATCTTCCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARF1_chr17_1628858_1650732	1643238	TCCCCGCC others(50): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGCCCGCCCCGCCCACC GGTGTCCG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	401	0.0025	-57	c.791 others(72): Show c.791+147_791+203delCGGACACCGGTGGGCGGGGCGGGCACCGGT GGGCGGGGCGGACACCGGTGGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1643272	GCCCGCCC others(50): Show GCCCGCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGTCCGCCCCGCC CACCTGTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0232 a0005c0005t0012g0232	1	401	0.0025	-57	c.791 others(72): Show c.791+113_791+169delGACAGGTGGGCGGGGCGGACACCGGTGGGC GGGGCGGACACCGGTGGGCGGGGCGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCYL3_chr1_169844631_169898896	169850988	TTTTTTTT others(50): Show TTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAGCT CAGGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03486.hp2 HG03130.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0224 a0001c0003t0040g0229 a0001c0003t0040g0224 a0001c0003t0040g0229	2	418	0.0048	-57	c.26 others(68): Show c.2668_*2724delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77335950	ATATACAT others(50): Show ATATACATGTAGGTCCTATGTTGACTGTATATGTGGTCCTATATTAGTAT ATGTACTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01168.hp2 others(27): Show HG00738.hp1 HG01099.hp1 HG01168.hp2 HG01261.hp2 HG02040.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18969.hp1 NA18979.hp2 NA18983.hp2 NA19043.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0029 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0049 a0001c0001t0053 a0001c0001t0059 a0002c0002t0004 a0002c0002t0041 a0002c0002t0042 a0002c0002t0045 a0002c0004t0022 a0003c0003t0055 a0004c0008t0003	a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 others(27): Show a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0005g0019 a0001c0001t0006g0128 a0001c0001t0007g0026 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0010g0135 a0001c0001t0019g0060 a0001c0001t0019g0076 a0001c0001t0029g0117 a0001c0001t0035g0132 a0001c0001t0038g0118 a0001c0001t0039g0102 a0001c0001t0049g0035 a0001c0001t0053g0010 a0001c0001t0059g0033 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0036 a0002c0002t0041g0041 a0002c0002t0042g0032 a0002c0002t0045g0042 a0002c0004t0022g0040 a0003c0003t0055g0095 a0004c0008t0003g0054	30	150	0.2000	-57	c.76+ others(74): Show c.76+28823_76+28879delTCCTATGTTGACTGTATATGTGGTCCTA TATTAGTATATGTACTGTATACATGTAGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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