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
SKI_chr1_2223319_2315213	2281382	AGGACGCC others(99): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0158 a0001c0001t0053g0158	1	323	0.0031	-106	c.970 others(19): Show c.970-21593_970-21488del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281468	AGGACGCC others(99): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAG GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp1 NA18947.hp1 others(1): Show HG02886.hp1 HG03471.hp1 NA18947.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0243 a0001c0001t0003g0247 a0001c0003t0001g0171 others(1): Show a0001c0001t0002g0243 a0001c0001t0003g0247 a0001c0003t0001g0171 a0001c0003t0001g0174	4	300	0.0133	-106	c.970 others(19): Show c.970-21507_970-21402del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281554	AGGACGCC others(99): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	302	0.0033	-106	c.970 others(19): Show c.970-21421_970-21316del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281597	AGGACGCC others(99): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	318	0.0031	-106	c.970 others(19): Show c.970-21378_970-21273del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281640	AGGATGCC others(99): Show AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	313	0.0032	-106	c.970 others(19): Show c.970-21335_970-21230del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281683	AGGACGCC others(99): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0213 a0001c0001t0037g0213	1	305	0.0033	-106	c.970 others(19): Show c.970-21292_970-21187del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281769	AGGACGCC others(99): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	289	0.0035	-106	c.970 others(19): Show c.970-21206_970-21101del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	AGGACGCC others(99): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	292	0.0034	-106	c.970 others(19): Show c.970-21163_970-21058del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1072029	CAGCCCCC others(99): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	103	0.0097	-106	c.224 others(19): Show c.2241+1498_2241+1603del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072649	GCCCCCAG others(99): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCC AGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	101	0.0099	-106	c.224 others(17): Show c.2241+878_2241+983del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073067	CAGCCCCC others(99): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0007 a0001c0031t0003g0007	1	102	0.0098	-106	c.224 others(17): Show c.2241+460_2241+565del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A7_chr12_59591029_59794841	59671954	TGTATATA others(99): Show TGTATATATGTGTATATATCCATATATCCGTATATATATGTGTATATATC CATATATCCGTATATATGTGTATATATCGCATATATCCGTATATATGTGT ATATATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03486.hp1 others(2): Show HG02109.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0008 a0001c0001t0006 a0002c0002t0008	a0001c0001t0006g0171 a0001c0001t0006g0226 a0002c0002t0008g0206 others(2): Show a0001c0001t0006g0171 a0001c0001t0006g0226 a0002c0002t0008g0206 a0002c0002t0008g0227 a0002c0002t0008g0251	5	248	0.0202	-106	c.-31 others(19): Show c.-31+16706_-31+16811del	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC39A14_chr8_22362278_22427736	22396433	AGAGAGAG others(99): Show AGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp1 HG02055.hp2 others(5): Show HG01346.hp1 HG01515.hp1 HG02055.hp2 HG03579.hp1 NA18944.hp1 NA18986.hp1 NA19005.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0001 others(1): Show a0001c0003 a0001c0004 a0003c0001 a0003c0008	a0001c0003t0005 a0001c0004t0001 a0003c0001t0001 others(2): Show a0001c0003t0005 a0001c0004t0001 a0003c0001t0001 a0003c0001t0016 a0003c0008t0018	a0001c0003t0005g0240 a0001c0004t0001g0257 a0003c0001t0001g0035 others(5): Show a0001c0003t0005g0240 a0001c0004t0001g0257 a0003c0001t0001g0035 a0003c0001t0001g0100 a0003c0001t0001g0110 a0003c0001t0016g0099 a0003c0001t0016g0139 a0003c0008t0018g0144	8	321	0.0249	-106	c.-15 others(17): Show c.-15-8247_-15-8142del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC9A3_chr5_465456_529449	486841	GCCCACCA others(99): Show GCCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACT GACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGC ACTGACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01517.hp2 others(6): Show HG00735.hp2 HG01074.hp1 HG01517.hp2 HG01891.hp2 HG02486.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0008 a0001c0003t0009	a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0009g0007	9	200	0.0450	-106	c.675 others(17): Show c.675+1369_675+1474del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169199191	GGTGAGGT others(99): Show GGTGAGGTATAATCGGCTGGGTTTTGTGACAGGATGTACGTGAGGATTGG TCTCTGCGTGAAGACCTGGTTAAGGATAACAGTGTGGCTGAAGTGTAGGA GAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02717.hp2 others(3): Show HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG03209.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0002c0044	a0001c0001t0001 a0001c0004t0005 a0001c0004t0018 others(2): Show a0001c0001t0001 a0001c0004t0005 a0001c0004t0018 a0001c0013t0001 a0002c0044t0007	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0004t0005g0008 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0004t0005g0008 a0001c0004t0018g0102 a0001c0013t0001g0091 a0002c0044t0007g0101	6	132	0.0455	-106	c.342 others(17): Show c.342-5747_342-5642del	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	3/35			chr5	TogoVar
SMAD9_chr13_36839831_36925238	36886843	CCAAGAGG others(99): Show CCAAGAGGGTGGCACAGGGGTGGAGAGAATTCCATGCATTTGGGTAACTG GAGGAAAAACTGTGGCCAAGGAAGAGTGGGCAAGGGTGTGAGTGGCTGGA AGTGAGG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0237 a0001c0001t0011g0237	1	356	0.0028	-106	c.-18 others(19): Show c.-186-7074_-186-6969del	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SNTG2_chr2_945849_1372613	983195	AGAGGTGG others(99): Show AGAGGTGGTGGTCAGGATGCAGAAGCTGCAGAGGTGGAGGTTGGGATGAA GAAGTTGCAGAGGTGGAGGTTGGGATGAAGCAGAGGCTCTCTTCCATAGA AGCTGCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0068 a0003c0007t0001g0068	1	188	0.0053	-106	c.72+ others(17): Show c.72+32146_72+32251del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1354233	GCCGGGCT others(99): Show GCCGGGCTGGAGCTCAGGGACTGGGTGTTCCGTGGCAGAGCGGCTGCCTG AGTTCCCTGAGCCTCATCTGTAAAGTGGATACGTTTCCATGGGGGAAGTG GAAGACC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0106 a0007c0017t0001g0106	1	188	0.0053	-106	c.148 others(21): Show c.1489-13005_1489-12900del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827438	ATATATTA others(99): Show ATATATTATAGTTTATATAATATATAAACTTATAGTTTATATAATATATA AACTTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAA CATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0279 a0001c0001t0011g0279	1	299	0.0033	-106	c.12+ others(15): Show c.12+4020_12+4125del	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(99): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACACACACACACACACACACA CACACAC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0266 a0001c0001t0041g0266	1	180	0.0056	-106	c.687 others(17): Show c.687+4159_687+4264del	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOX5_chr12_23524504_23954670	23837257	TTATATAA others(99): Show TTATATAATATATAATATGTATTTATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0134 a0001c0001t0104g0134	1	194	0.0052	-106	c.481 others(17): Show c.481+8620_481+8725del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPATC1L_chr21_46156160_46189459	46184458	ACAACCCA others(99): Show ACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCAC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0178 a0005c0006t0009g0178	1	240	0.0042	-106	c.-11 others(11): Show c.-1167_-1062del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	1/5	1643		chr21	TogoVar
SRGAP2C_chr1_121179975_121397874	121239178	CTATATAT others(99): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT ACTATATATATATATATACTATATATATATATATATATACTATATATATA TATACTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0270 a0002c0002t0009g0271 a0002c0002t0009g0270 a0002c0002t0009g0271	2	216	0.0093	-106	c.68- others(17): Show c.68-45608_68-45503del	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SSU72_chr1_1536673_1579863	1572067	TTACAGGC others(99): Show TTACAGGCGTGAGCCACCGCGCCCAGCCCTAAATAGAATTTTTAAAACAT TTCCTTTTGTTAAGATTTCTACTCCATCTTGCCAGGCGCAGTAGCTCACG CCTATAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0257 a0001c0001t0007g0257	1	384	0.0026	-106	c.80+ others(15): Show c.80+2305_80+2410del	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4			chr1	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(99): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG02965.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0002 a0001c0011t0001 a0001c0004t0002 a0001c0011t0001	a0001c0004t0002g0053 a0001c0011t0001g0239 a0001c0004t0002g0053 a0001c0011t0001g0239	2	277	0.0072	-106	c.170 others(19): Show c.170-10294_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD8_chrX_68642666_68730836	68653506	ATACACAC others(99): Show ATACACACCACACACACCACACACACCACAGCACACACACACCACAGCAC ACATACACCACACACACACCACACACACACCACACCACACAAGCACACAC ACCCCAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0033 a0002c0003t0016g0033	1	197	0.0051	-106	c.45+ others(15): Show c.45+5580_45+5685del	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14			chrX	TogoVar
STIM1_chr11_3850664_4098208	3895653	TCTTTCTT others(99): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCC TTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	296	0.0034	-106	c.139 others(19): Show c.139+39248_139+39353del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895661	TCTTTCTT others(99): Show TCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	291	0.0034	-106	c.139 others(19): Show c.139+39256_139+39361del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895665	TCTTTCTT others(99): Show TCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	290	0.0034	-106	c.139 others(19): Show c.139+39260_139+39365del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STON2_chr14_81255652_81405324	81308814	ATATATAT others(99): Show ATATATATATATGTGTGTGTGTGTATATATATATATATACACATACATAC ATACATACATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAG GCTGCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG01258.hp2 others(19): Show HG00738.hp2 HG01256.hp2 HG01258.hp2 HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp2 NA18959.hp2 NA18979.hp2 NA19012.hp2 NA19030.hp1 NA19062.hp1 NA19087.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0002 a0001c0016 a0002c0001 others(3): Show a0001c0002 a0001c0016 a0002c0001 a0005c0005 a0006c0006 a0007c0007	a0001c0002t0001 a0001c0002t0005 a0001c0002t0057 others(10): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0057 a0001c0016t0005 a0002c0001t0029 a0002c0001t0066 a0005c0005t0004 a0005c0005t0036 a0005c0005t0037 a0006c0006t0002 a0006c0006t0015 a0006c0006t0026 a0007c0007t0056	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0005g0167 others(19): Show a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0005g0167 a0001c0002t0005g0199 a0001c0002t0057g0166 a0001c0016t0005g0196 a0002c0001t0029g0094 a0002c0001t0066g0049 a0005c0005t0004g0039 a0005c0005t0004g0080 a0005c0005t0004g0093 a0005c0005t0004g0119 a0005c0005t0004g0233 a0005c0005t0036g0174 a0005c0005t0037g0017 a0006c0006t0002g0054 a0006c0006t0002g0055 a0006c0006t0015g0027 a0006c0006t0015g0186 a0006c0006t0026g0180 a0006c0006t0026g0210 a0007c0007t0056g0012	22	259	0.0849	-106	c.742 others(19): Show c.742+15097_742+15202del	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STXBP3_chr1_108741674_108814523	108771580	ATATCTAT others(99): Show ATATCTATATATATCATATATAAATATATATGATATATATCTATATATCA TATATAAATATATATGATATATATCTATATATATCATATATAAATATATA TGATATC	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	330	0.0030	-106	c.439 others(16): Show c.439-1049_439-944del	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYNPR_chr3_63273308_63621924	63313692	TATATATA others(99): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0068 a0001c0001t0007g0068	1	246	0.0041	-106	c.84+ others(17): Show c.84+34973_84+35078del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TDRP_chr8_484946_549834	502714	ATCAACAC others(99): Show ATCAACACAGAATCCAGAGCCACACAATGGAACCCATGCCCAACTCAGCA TGCATCAACATGGAATCCAGAGCCATACACTGGAACCAATGCCCACCTCA ACACATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0059 a0003c0004t0059	a0003c0004t0059g0288 a0003c0004t0059g0288	1	442	0.0023	-106	c.109 others(17): Show c.109-8223_109-8118del	TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2			chr8	TogoVar
TFB1M_chr6_155251134_155319484	155305463	ATATAAAT others(99): Show ATATAAATATATATTAAATTATATATATAAATATATATTAAATTATATAT TTATATATATATTAAATTATATATTTATATATATAAATATATATTAAATT ATATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03704.hp1 NA18941.hp1 others(21): Show HG00735.hp1 HG03704.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18970.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0026 a0001c0001t0002g0232 a0001c0001t0002g0263 others(20): Show a0001c0001t0002g0026 a0001c0001t0002g0232 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0016g0272	24	336	0.0714	-106	c.285 others(17): Show c.285+5619_285+5724del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFF2_chr21_42341357_42355994	42352223	ATCCTCCA others(99): Show ATCCTCCAGGCCCCTGCTCCTCCAGACCCTCATCCTCCAGACCCTCATCC TCCAGGCCCCCATCTTTCAGGCCCCTGTCCTCCAGGCCCTCTTCCTCCAG ACCCTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0076 a0003c0005t0003g0076	1	452	0.0022	-106	c.-13 others(11): Show c.-1372_-1267del	TFF2	ENSG00000160181.9	transcript	ENST00000291526.5	protein_coding		1230		chr21	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	GCTGGGGT others(99): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 NA19079.hp2 HG00280.hp2 HG03239.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0001g0277 a0001c0001t0003g0041 a0001c0001t0001g0129 a0001c0001t0001g0277 a0001c0001t0003g0041	3	181	0.0166	-106	c.189 others(15): Show c.189-451_189-346del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747894	GGCTGGGG others(99): Show GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	312	0.0032	-106	c.189 others(15): Show c.189-431_189-326del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(99): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp1 HG02040.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0128 a0001c0001t0041g0081 a0001c0001t0002g0128 a0001c0001t0041g0081	2	201	0.0100	-106	c.233 others(17): Show c.233+1349_233+1454del	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TNC_chr9_115014575_115123157	115095556	GTATATAT others(99): Show GTATATATATGTATATATATGTATATATATGTATATATATGTATATATAT ATGTATATATGTATATATATATGTATATATATGTATATATATATGTATAT ATATGTA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19062.hp2 NA18972.hp1 NA19062.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0003 a0010c0008t0021 a0010c0008t0003 a0010c0008t0021	a0010c0008t0003g0024 a0010c0008t0021g0011 a0010c0008t0003g0024 a0010c0008t0021g0011	2	364	0.0055	-106	c.-13 others(19): Show c.-136-4508_-136-4403del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TNK2_chr3_195858364_195913551	195881638	CCCCCCCC others(99): Show CCCCCCCCAGCAACGCCCTTTGGAGAGGACACAGCATTTATCCCTATAAC ACCCCCCCGCCAGCAATGCCCCTTGGAGAGGACACAGGATCTATCCCTGA AACACGA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0301 a0001c0009t0002g0301	1	370	0.0027	-106	c.887 others(15): Show c.887+307_887+412del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TOP1MT_chr8_143304324_143339880	143316502	CGGCTTCC others(99): Show CGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCACAAGTCCCCAGC ACCCGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCACAAGTCCCC AGCACCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(310): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(13): Show a0001 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0008 a0001c0026 others(18): Show a0001c0001 a0001c0008 a0001c0026 a0003c0002 a0003c0005 a0003c0021 a0003c0033 a0005c0009 a0007c0015 a0008c0014 a0009c0016 a0010c0017 a0011c0013 a0012c0011 a0013c0025 a0014c0020 a0016c0018 a0017c0019 a0018c0030 a0019c0022 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0026t0001 a0003c0002t0001 a0003c0005t0001 a0003c0021t0001 a0003c0033t0001 a0005c0009t0001 a0007c0015t0001 a0008c0014t0001 a0009c0016t0001 a0010c0017t0001 a0011c0013t0001 a0012c0011t0001 a0013c0025t0001 a0014c0020t0001 a0016c0018t0001 a0017c0019t0001 a0018c0030t0001 a0019c0022t0001 a0020c0023t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0019 others(277): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0002g0147 a0001c0008t0001g0049 a0001c0008t0001g0064 a0001c0008t0001g0065 a0001c0008t0001g0100 a0001c0008t0001g0214 a0001c0008t0001g0370 a0001c0008t0001g0371 a0001c0026t0001g0156 a0003c0002t0001g0002 a0003c0002t0001g0003 a0003c0002t0001g0006 a0003c0002t0001g0008 a0003c0002t0001g0012 a0003c0002t0001g0043 a0003c0002t0001g0044 a0003c0002t0001g0045 a0003c0002t0001g0096 a0003c0002t0001g0106 a0003c0002t0001g0121 a0003c0002t0001g0130 a0003c0002t0001g0131 a0003c0002t0001g0133 a0003c0002t0001g0134 a0003c0002t0001g0135 a0003c0002t0001g0149 a0003c0002t0001g0159 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0168 a0003c0002t0001g0171 a0003c0002t0001g0173 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0206 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0227 a0003c0002t0001g0266 a0003c0002t0001g0369 a0003c0005t0001g0001 a0003c0005t0001g0013 a0003c0005t0001g0014 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0077 a0003c0005t0001g0080 a0003c0005t0001g0081 a0003c0005t0001g0082 a0003c0005t0001g0083 a0003c0005t0001g0084 a0003c0005t0001g0086 a0003c0005t0001g0087 a0003c0005t0001g0088 a0003c0005t0001g0089 a0003c0005t0001g0090 a0003c0021t0001g0099 a0003c0033t0001g0072 a0005c0009t0001g0040 a0007c0015t0001g0128 a0007c0015t0001g0129 a0008c0014t0001g0313 a0008c0014t0001g0314 a0009c0016t0001g0073 a0009c0016t0001g0074 a0010c0017t0001g0373 a0010c0017t0001g0382 a0011c0013t0001g0020 a0012c0011t0001g0357 a0012c0011t0001g0358 a0013c0025t0001g0343 a0014c0020t0001g0364 a0016c0018t0001g0037 a0017c0019t0001g0228 a0018c0030t0001g0242 a0019c0022t0001g0145 a0020c0023t0001g0132	313	428	0.7313	-106	c.133 others(17): Show c.1331-482_1331-377del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	10/13			chr8	TogoVar
TPD52_chr8_80029745_80176564	80072353	GTGTATAT others(99): Show GTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAG ATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTAC ACATAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02572.hp2 others(3): Show HG01081.hp1 HG02055.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0005g0098 a0001c0001t0005g0154	6	224	0.0268	-106	c.20- others(15): Show c.20-7866_20-7761del	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TRANK1_chr3_36821819_36950054	36879963	TGCAAATA others(99): Show TGCAAATATATGTAAACATGCAAATATATGTAAACATGCAAATATATGTA AACATGCAAATATATGTAAACATGCAAATATATGTAAACATACAAATATA TGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0002 a0008c0031t0002	a0008c0031t0002g0034 a0008c0031t0002g0034	1	328	0.0030	-106	c.908 others(17): Show c.908-5773_908-5668del	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRPM2_chr21_44348621_44447644	44396137	AGGCTGTG others(99): Show AGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGG GGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGGG TGTGGAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01884.hp2 HG02647.hp2 others(2): Show HG01071.hp1 HG01884.hp2 HG02647.hp2 HG06807.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0014 a0001c0001 a0001c0006 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0006t0002 a0003c0014t0003	a0001c0001t0001g0025 a0001c0001t0002g0023 a0001c0001t0007g0017 others(2): Show a0001c0001t0001g0025 a0001c0001t0002g0023 a0001c0001t0007g0017 a0001c0006t0002g0024 a0003c0014t0003g0044	5	37	0.1351	-106	c.193 others(17): Show c.1932+608_1932+713del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TVP23A_chr16_10761675_10823794	10764742	AGTCTGCT others(99): Show AGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTA TGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGG AGCATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(135): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18965.hp2 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0005c0006t0004	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 others(134): Show a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0109 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0178 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0251 a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0315 a0001c0001t0003g0323 a0001c0001t0003g0328 a0001c0001t0003g0339 a0001c0001t0003g0347 a0001c0001t0003g0349 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0370 a0001c0001t0003g0374 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0383 a0001c0001t0004g0002 a0001c0001t0004g0047 a0001c0001t0004g0059 a0001c0001t0004g0064 a0001c0001t0004g0067 a0001c0001t0004g0074 a0001c0001t0004g0099 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0004g0185 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0231 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0291 a0001c0001t0004g0300 a0001c0001t0004g0311 a0001c0001t0004g0319 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0348 a0001c0001t0004g0379 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0031 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0087 a0001c0001t0005g0091 a0001c0001t0005g0098 a0001c0001t0005g0114 a0001c0001t0005g0121 a0001c0001t0005g0170 a0001c0001t0005g0203 a0001c0001t0005g0222 a0001c0001t0005g0244 a0001c0001t0005g0252 a0001c0001t0005g0266 a0001c0001t0005g0284 a0001c0001t0005g0322 a0001c0001t0005g0329 a0001c0001t0005g0382 a0001c0001t0010g0118 a0001c0001t0010g0138 a0001c0001t0010g0147 a0001c0001t0010g0159 a0001c0001t0010g0362 a0001c0001t0010g0363 a0001c0001t0012g0395 a0001c0001t0012g0397 a0001c0001t0012g0404 a0001c0001t0012g0407 a0001c0001t0012g0408 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0021g0212 a0001c0001t0021g0213 a0001c0001t0022g0389 a0001c0001t0034g0290 a0001c0001t0035g0056 a0001c0001t0036g0046 a0001c0001t0037g0103 a0001c0001t0038g0039 a0001c0001t0039g0065 a0001c0001t0040g0366 a0001c0001t0041g0297 a0001c0001t0042g0264 a0001c0001t0048g0384 a0001c0001t0051g0391 a0001c0001t0055g0392 a0001c0001t0056g0399 a0001c0001t0057g0393 a0005c0006t0004g0227	138	408	0.3382	-106	c.42 others(11): Show c.4254_*4359del	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1932		chr16	TogoVar
TYMS_chr18_652653_678578	667231	GGAGATGG others(99): Show GGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG GATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGA TGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	478	0.0021	-106	c.455 others(17): Show c.455-1839_455-1734del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP40_chr2_233470526_233571782	233567864	TTATAGTT others(99): Show TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0068 a0004c0004t0003g0068	1	308	0.0032	-106	c.-13 others(11): Show c.-1306_-1201del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1083		chr2	TogoVar
ZBTB2_chr6_151359115_151396559	151374032	TTTAGTTT others(99): Show TTTAGTTTAAAATTCCAAATGCAAATGGAGTCTTTTAGTTTAAGATTCCA AATGGAAATTCTAATGATGCATCAGAGTTTGTCAATTCTTCCACAGAGAT AGATAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	386	0.0026	-106	c.-12 others(15): Show c.-12-489_-12-384del	ZBTB2	ENSG00000181472.5	transcript	ENST00000325144.5	protein_coding	1/2			chr6	TogoVar
ZFPM1_chr16_88448280_88542031	88461044	GGCGGGAG others(99): Show GGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCA AGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGT GAGGACC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0025 a0005c0034t0025	a0005c0034t0025g0140 a0005c0034t0025g0140	1	316	0.0032	-106	c.40+ others(15): Show c.40+7368_40+7473del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZKSCAN3_chr6_28344947_28374172	28349091	CATAGGTG others(99): Show CATAGGTGTATATACATGTCTCATATACATAGGTGTATATATATGTCTCA TATATAGGTGTATATATATGTCTCATATATATAGGTGTATATATATGTCT CATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02896.hp2 others(9): Show HG01070.hp2 HG01071.hp2 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03453.hp2 HG03834.hp2 NA18952.hp2 NA18965.hp1 NA18975.hp2 NA19057.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0038 a0002c0002t0002g0058 others(3): Show a0002c0002t0002g0015 a0002c0002t0002g0038 a0002c0002t0002g0058 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067	12	412	0.0291	-106	c.-10 others(10): Show c.-1038_-933del	ZKSCAN3	ENSG00000189298.14	transcript	ENST00000252211.7	protein_coding		855		chr6	TogoVar

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