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
UBR3_chr2_169822454_170089131	169983252	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0190 a0001c0006t0014g0190	1	95	0.0105	25	c.363 others(44): Show c.3635-3371_3635-3370insTTTTTTTTTTTTTTTTTTTTTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19007.hp1 HG03486.hp1 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0019 a0001c0003t0002 a0002c0004t0019	a0001c0003t0002g0239 a0002c0004t0019g0293 a0001c0003t0002g0239 a0002c0004t0019g0293	2	113	0.0177	25	c.402 others(42): Show c.4029+504_4029+528dupAAAAAAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19072402	G G	GCTGGAGC others(18): Show GCTGGAGCCCAGACCAGCCTCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02155.hp2 HG02165.hp2 others(9): Show HG00735.hp2 HG02155.hp2 HG02165.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03654.hp2 HG04199.hp1 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA19003.hp2	a0002 a0020 a0002 a0020	a0002c0006 a0020c0052 a0002c0006 a0020c0052	a0002c0006t0001 a0020c0052t0001 a0002c0006t0001 a0020c0052t0001	a0002c0006t0001g0162 a0002c0006t0001g0274 a0002c0006t0001g0275 others(9): Show a0002c0006t0001g0162 a0002c0006t0001g0274 a0002c0006t0001g0275 a0002c0006t0001g0276 a0002c0006t0001g0277 a0002c0006t0001g0278 a0002c0006t0001g0279 a0002c0006t0001g0280 a0002c0006t0001g0281 a0002c0006t0001g0282 a0002c0006t0001g0320 a0020c0052t0001g0152	12	322	0.0373	25	c.24 others(36): Show c.2429_*2430insGAGTGGAGGCTGGTCTGGGCTCCAG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding		2107		chr1	TogoVar
UBR5_chr8_102247273_102417700	102283341	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	158	0.0063	25	c.569 others(44): Show c.5696+1785_5696+1786insCCCCCCCCCCCCCCCCCCCCCCCCC	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	40/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAATGGAA others(18): Show AAATGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG03486.hp2 HG02486.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0010g0203 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0010g0203	3	249	0.0120	25	c.62+ others(42): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCATT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBXN11_chr1_26277282_26311636	26309569	T T	TTGGGAAA others(18): Show TTGGGAAAGTCAGAGCCTTATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0115 a0004c0004t0001g0115	1	368	0.0027	25	c.-30 others(36): Show c.-3038_-3014dupTTATAATAAGGCTCTGACTTTCCCA	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding		2934		chr1	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(18): Show GAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00735.hp1 others(28): Show HG00597.hp1 HG00621.hp1 HG00735.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02683.hp1 HG03453.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA19004.hp1 NA19010.hp1 NA19070.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0064 a0001c0001t0068 a0002c0005t0006	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0111 a0001c0001t0008g0041 a0001c0001t0008g0043 a0001c0001t0008g0069 a0001c0001t0015g0228 a0001c0001t0021g0023 a0001c0001t0025g0103 a0001c0001t0025g0110 a0001c0001t0032g0071 a0001c0001t0064g0028 a0001c0001t0068g0232 a0002c0005t0006g0179	31	102	0.3039	25	c.289 others(42): Show c.289+1104_289+1128dupTCTCTTCTCTTCTCTTCTCTTCTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UCHL3_chr13_75544791_75611020	75571976	C C	CTGTCTTG others(18): Show CTGTCTTGTCTTGTCTTGTCTTGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(9): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0121 a0001c0001t0001g0122	12	68	0.1765	25	c.474 others(42): Show c.474+2496_474+2520dupGTCTTGTCTTGTCTTGTCTTGTCTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL5_chr1_193007254_193064360	193043151	T T	TTAAAAAA others(18): Show TTAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG00738.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	2	30	0.0667	25	c.246 others(42): Show c.246+6594_246+6595insTTTTTTTTTTTTTTTTTTTTTTTTA	UCHL5	ENSG00000116750.14	transcript	ENST00000367454.6	protein_coding	3/10			chr1	TogoVar
UGCG_chr9_111891814_111940369	111894990	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0366 a0001c0001t0024g0366	1	47	0.0213	25	c.-22 others(36): Show c.-2226_-2225insTTTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding		1823		chr9	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02083.hp2 NA19090.hp1 HG01358.hp1 HG02083.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0021 a0001c0002t0002 a0001c0002t0021	a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0021g0263 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0021g0263	3	39	0.0769	25	c.241 others(42): Show c.241-1045_241-1021dupTTTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0331 a0003c0003t0004g0331	1	29	0.0345	25	c.229 others(44): Show c.2295+1262_2295+1286dupAAAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG03834.hp1 others(1): Show HG02818.hp2 HG03453.hp1 HG03834.hp1 NA18957.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0041 a0002c0002t0001g0010 a0003c0003t0001g0259 others(1): Show a0001c0001t0001g0041 a0002c0002t0001g0010 a0003c0003t0001g0259 a0004c0006t0001g0167	4	5	0.8000	25	c.-89 others(34): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233661623	T T	TTTTCTTT others(18): Show TTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(6): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0258	9	56	0.1607	25	c.855 others(44): Show c.855+24261_855+24262insTCTTTCTTTCTTTCTTTCTTTCTTT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661623	T T	TTTTCTTT others(18): Show TTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00738.hp2 others(6): Show HG00140.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp2 HG01358.hp1 HG01884.hp1 HG03017.hp1 HG03834.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0007t0001 a0003c0005t0001 a0001c0001t0001 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0186 others(6): Show a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0268 a0001c0007t0001g0168 a0001c0007t0001g0175 a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0081	9	57	0.1579	25	c.855 others(44): Show c.855+43076_855+43077insTCTTTCTTTCTTTCTTTCTTTCTTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067835	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	408	0.0025	25	c.-10 others(36): Show c.-1071_-1047dupTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		954		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(18): Show GATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	176	0.0057	25	c.-12 others(36): Show c.-1223_-1222insATATATATATATATATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0098 a0001c0024t0001g0098	1	93	0.0108	25	c.786 others(42): Show c.786-2791_786-2767dupTTTTTTTTTTTTTTTTTTTTTTTTT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCACAC others(18): Show TACCACACCACACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG02976.hp2 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0325 a0003c0004t0003g0326 a0003c0004t0003g0325 a0003c0004t0003g0326	2	281	0.0071	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTGTGGTGTGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(18): Show TACCATACCATACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	280	0.0036	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(18): Show TACCATACCATACCATACCATACCAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	280	0.0036	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTATGGTATGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0016 a0001c0004t0011g0016	1	108	0.0093	25	c.109 others(44): Show c.1096+2310_1096+2311insAAAAAAAAATATATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41311960	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG02970.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0003g0069 a0001c0001t0001g0049 a0001c0001t0003g0069	2	48	0.0417	25	c.367 others(46): Show c.3679-62411_3679-62387dupATAAAATAAAATAAAATAAAATAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41412553	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	18	0.0556	25	c.349 others(46): Show c.3493-14314_3493-14290dupAAAAAAAAAAAAAAAAAAAAAAAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01106.hp1 HG01109.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0001 a0013c0024t0001 a0001c0001t0001 a0013c0024t0001	a0001c0001t0001g0036 a0013c0024t0001g0027 a0001c0001t0001g0036 a0013c0024t0001g0027	2	28	0.0714	25	c.349 others(46): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAAAAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41469602	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	26	0.0385	25	c.322 others(44): Show c.3227-6374_3227-6350dupTTTTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp2 HG01243.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0004c0002t0005 a0001c0001t0003 a0004c0002t0005	a0001c0001t0003g0070 a0004c0002t0005g0067 a0001c0001t0003g0070 a0004c0002t0005g0067	2	22	0.0909	25	c.322 others(46): Show c.3227-43515_3227-43514insATTTATATATATATTTTTTTTTTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0015 a0002c0004t0002g0015	1	21	0.0476	25	c.322 others(46): Show c.3227-43515_3227-43514insATTTATATATATATATTTTTTTTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41602251	A A	AAAAGGAA others(18): Show AAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0009 a0004c0002t0002g0009	1	11	0.0909	25	c.312 others(46): Show c.3120+13393_3120+13417dupCCTTTCCTTTCCTTTCCTTTCCTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0065 a0007c0005t0001g0065	1	8	0.1250	25	c.307 others(44): Show c.3071+5788_3071+5789insTTTTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7678938	T T	TATATTTA others(18): Show TATATTTATATATTTAGTTTATAAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp2 HG02698.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0025 a0001c0001t0010 a0001c0001t0025	a0001c0001t0010g0097 a0001c0001t0025g0095 a0001c0001t0010g0097 a0001c0001t0025g0095	2	247	0.0081	25	c.82+ others(40): Show c.82+5490_82+5514dupTTATATATTTAGTTTATAAACATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	147	0.0068	25	c.83- others(42): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0231 a0001c0001t0036g0231	1	26	0.0385	25	c.83- others(40): Show c.83-5402_83-5401insTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03130.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG03130.hp2 HG03225.hp1	a0005 a0035 a0093 a0005 a0035 a0093	a0005c0019 a0035c0164 a0035c0165 others(1): Show a0005c0019 a0035c0164 a0035c0165 a0093c0162	a0005c0019t0005 a0035c0164t0001 a0035c0165t0001 others(1): Show a0005c0019t0005 a0035c0164t0001 a0035c0165t0001 a0093c0162t0005	a0005c0019t0005g0064 a0035c0164t0001g0074 a0035c0165t0001g0266 others(1): Show a0005c0019t0005g0064 a0035c0164t0001g0074 a0035c0165t0001g0266 a0093c0162t0005g0265	4	66	0.0606	25	c.932 others(42): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13A_chr19_17596336_17693354	17670907	G G	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG02559.hp1 others(6): Show HG01361.hp1 HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 others(2): Show a0001c0002 a0001c0008 a0001c0011 a0001c0032 a0001c0070	a0001c0002t0011 a0001c0002t0027 a0001c0008t0002 others(3): Show a0001c0002t0011 a0001c0002t0027 a0001c0008t0002 a0001c0011t0001 a0001c0032t0008 a0001c0070t0001	a0001c0002t0011g0039 a0001c0002t0027g0295 a0001c0008t0002g0274 others(6): Show a0001c0002t0011g0039 a0001c0002t0027g0295 a0001c0008t0002g0274 a0001c0008t0002g0276 a0001c0008t0002g0277 a0001c0011t0001g0089 a0001c0011t0001g0300 a0001c0032t0008g0163 a0001c0070t0001g0313	9	105	0.0857	25	c.271 others(42): Show c.271-1256_271-1232dupTTTTATTTTATTTTATTTTATTTTA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	4/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0192 a0002c0003t0001g0192	1	7	0.1429	25	c.-46 others(36): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0017 a0002c0010t0001g0017	1	28	0.0357	25	c.152 others(40): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TAAAAATA others(18): Show TAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0179 a0002c0011t0001g0179	1	116	0.0086	25	c.469 others(42): Show c.469-1619_469-1618insATATTTATATAAATATTTATAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATAAAAAT others(18): Show ATAAAAATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0001 a0001c0035t0001 a0001c0001t0001 a0001c0035t0001	a0001c0001t0001g0004 a0001c0035t0001g0001 a0001c0001t0001g0004 a0001c0035t0001g0001	2	20	0.1000	25	c.298 others(46): Show c.2983+22239_2983+22240insAAAAATTTTTTTTTTTTTTTTTTT T	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATAAAA others(18): Show ATATAAAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0003 a0001c0001t0025g0003	1	19	0.0526	25	c.298 others(46): Show c.2983+22239_2983+22240insATAAAAATTTTTTTTTTTTTTTTT T	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18964.hp1 HG02630.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0020 a0001c0020t0001 a0001c0002t0020 a0001c0020t0001	a0001c0002t0020g0020 a0001c0020t0001g0043 a0001c0002t0020g0020 a0001c0020t0001g0043	2	7	0.2857	25	c.298 others(44): Show c.2984-4064_2984-4040dupTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54172701	C C	CACACAGA others(18): Show CACACAGATTATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	155	0.0065	25	c.307 others(46): Show c.3071+29018_3071+29019insCACAGATTATATATATATATATAA A	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54370898	T T	TGACATGA others(18): Show TGACATGAAATCACATGTTAGTGTAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0002 a0001c0001t0059 a0001c0002t0002	a0001c0001t0059g0147 a0001c0002t0002g0063 a0001c0001t0059g0147 a0001c0002t0002g0063	2	156	0.0128	25	c.471 others(46): Show c.4714-22149_4714-22125dupGACATGAAATCACATGTTAGTGTA C	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54516799	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	31	0.0323	25	c.545 others(44): Show c.5457+4982_5457+4983insAAAAAAAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp2 HG02965.hp1 others(2): Show HG01981.hp1 HG02257.hp2 HG02965.hp1 HG03017.hp1 NA18906.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0025 a0001c0001 a0017c0025	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0017c0025t0015	a0001c0001t0002g0248 a0001c0001t0005g0200 a0001c0001t0005g0265 others(2): Show a0001c0001t0002g0248 a0001c0001t0005g0200 a0001c0001t0005g0265 a0001c0001t0018g0241 a0017c0025t0015g0332	5	13	0.3846	25	c.115 others(44): Show c.1151+1921_1151+1945dupAAAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TGAAAAAA others(18): Show TGAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	9	0.1111	25	c.115 others(44): Show c.1151+1920_1151+1921insGAAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19			chr17	TogoVar
UNC5C_chr4_95157504_95553973	95267949	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0084 a0001c0014t0004g0084	1	73	0.0137	25	c.594 others(44): Show c.594+10309_594+10310insAAAAAAAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95275025	C C	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp2 HG02896.hp1 others(8): Show HG01346.hp1 HG02280.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03486.hp2 HG03688.hp2 NA18942.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0002 a0002c0008 a0003c0013	a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 others(6): Show a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0010t0004 a0002c0002t0001 a0002c0002t0002 a0002c0008t0002 a0003c0013t0009	a0001c0003t0013g0078 a0001c0004t0001g0148 a0001c0004t0003g0014 others(8): Show a0001c0003t0013g0078 a0001c0004t0001g0148 a0001c0004t0003g0014 a0001c0005t0001g0077 a0001c0010t0004g0192 a0001c0010t0004g0193 a0002c0002t0001g0069 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0008t0002g0052 a0003c0013t0009g0098	11	106	0.1038	25	c.594 others(42): Show c.594+3209_594+3233dupTGTTTTGTTTTGTTTTGTTTTGTTT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03710.hp2 HG02896.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0018 a0002c0007t0002 a0001c0004t0018 a0002c0007t0002	a0001c0004t0018g0159 a0002c0007t0002g0096 a0001c0004t0018g0159 a0002c0007t0002g0096	2	147	0.0136	25	c.125 others(44): Show c.125-18849_125-18848insAAATATATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(18): Show CACACACACACACACACACACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18983.hp1 HG03927.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0044 a0003c0007t0002g0007 a0001c0001t0002g0044 a0003c0007t0002g0007	2	22	0.0909	25	c.-52 others(36): Show c.-5273_-5272insACACACACACACACACACACAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar

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