Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBE3C_chr7_157133926_157274370	157264325	T T	TTACAGGT others(43): Show TTACAGGTGTGAGCCAACATGCTCGGCCTGTTACACACACACACCTGGTA C	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19010.hp1 HG00423.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0114 a0001c0003t0003g0116 a0001c0003t0003g0114 a0001c0003t0003g0116	2	322	0.0062	50	c.308 others(69): Show c.3082-3247_3082-3198dupCCAACATGCTCGGCCTGTTACACACA CACACCTGGTACTACAGGTGTGAG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE4A_chr11_118354600_118404211	118355641	A A	ATGTATAT others(43): Show ATGTATATATACACATATACATATATGTATATATACACATATACATATAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	320	0.0031	50	c.-40 others(61): Show c.-4075_-4074insTGTATATATACACATATACATATATGTATATATA CACATATACATATATG	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3958		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355934	T T	TATATGTG others(43): Show TATATGTGTGTGTATACGCATACACATATATGTGTATGCGTATACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	320	0.0031	50	c.-37 others(61): Show c.-3782_-3781insATATGTGTGTGTATACGCATACACATATATGTGT ATGCGTATACACACAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3665		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355934	T T	TATATGTG others(43): Show TATATGTGTGTGTATACGCATACACATATGTGTGTATGCGTATACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	320	0.0031	50	c.-37 others(61): Show c.-3782_-3781insATATGTGTGTGTATACGCATACACATATGTGTGT ATGCGTATACACACAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3665		chr11	TogoVar
UBR2_chr6_42559029_42698505	42614375	T T	TATATATG others(43): Show TATATATGTATGTACGTACATACATACGTATATATGTACGTACATACATA C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0265 a0001c0003t0003g0303 a0001c0003t0003g0265 a0001c0003t0003g0303	2	342	0.0059	50	c.986 others(65): Show c.986-696_986-695insATATATGTATGTACGTACATACATACGTAT ATATGTACGTACATACATAC	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	8/46			chr6	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATGTGTGTATATATATAT G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02523.hp1 others(3): Show HG00438.hp2 HG02056.hp1 HG02523.hp1 NA18966.hp2 NA19000.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0116 others(3): Show a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0116 a0001c0002t0002g0138 a0001c0002t0002g0167 a0001c0002t0007g0129	6	324	0.0185	50	c.103 others(67): Show c.1039-601_1039-600insATATATATATATATATATATATATGTGT GTATATATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATGTGTGTGTATATATATAT G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	324	0.0031	50	c.103 others(67): Show c.1039-601_1039-600insATATATATATATATATATATATGTGTGT GTATATATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBTFL1_chr11_90080950_90092131	90082775	C C	CCTTCCTT others(43): Show CCTTCCTTCCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	1	276	0.0036	50	c.-31 others(61): Show c.-3175_-3174insCTTCCTTCCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	UBTFL1	ENSG00000255009.4	transcript	ENST00000530464.2	protein_coding		3174		chr11	TogoVar
UBXN2B_chr8_58406361_58456501	58441348	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATGTA T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0276	1	414	0.0024	50	c.671 others(67): Show c.671+1598_671+1599insATATATATATATATATATATATATATGT ATATATATATATATATATATAT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(43): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0230 a0001c0001t0020g0230	1	274	0.0037	50	c.289 others(67): Show c.289+1128_289+1129insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UCK2_chr1_165822614_165916618	165835314	T T	TATATATA others(43): Show TATATATATTTTTATATGTTATAAAATATAGTACATTTTATATGTTATAA A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02647.hp2 others(9): Show HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0291 a0001c0001t0002g0279 a0001c0001t0004g0282 others(9): Show a0001c0001t0001g0291 a0001c0001t0002g0279 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0006g0285 a0001c0001t0009g0276 a0001c0001t0009g0290 a0001c0001t0012g0280	12	320	0.0375	50	c.99+ others(65): Show c.99+7401_99+7402insATAAAATATAGTACATTTTATATGTTATAA AATATATATTTTTATATGTT	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCN3_chr10_5359966_5379692	5370211	A A	ATATGCGT others(43): Show ATATGCGTGTGTATATGCGTGTGTATGTGCGTCTGTATGTGTGTGTGTAT G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0237 a0002c0001t0002g0237	1	468	0.0021	50	c.-6- others(65): Show c.-6-3503_-6-3502insATGCGTGTGTATATGCGTGTGTATGTGCGT CTGTATGTGTGTGTGTATGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370211	A A	ATATGCGT others(43): Show ATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGTGTGTGTAT G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG01975.hp1 others(7): Show HG01081.hp2 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0004 a0002c0001 a0004c0004	a0002c0001t0002 a0002c0001t0011 a0004c0004t0002 a0002c0001t0002 a0002c0001t0011 a0004c0004t0002	a0002c0001t0002g0025 a0002c0001t0002g0241 a0002c0001t0002g0242 others(4): Show a0002c0001t0002g0025 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0011g0003 a0004c0004t0002g0025	10	468	0.0214	50	c.-6- others(65): Show c.-6-3503_-6-3502insATGCGTGTGTATATGCGTGTGTATGTGCGT GTGTATGTGTGTGTGTATGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370575	G G	GTGTATAT others(43): Show GTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGT A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01346.hp2 others(4): Show HG01123.hp1 HG01167.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp1 HG02148.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0091 a0001c0002t0003g0093 others(3): Show a0001c0002t0003g0018 a0001c0002t0003g0091 a0001c0002t0003g0093 a0001c0002t0003g0101 a0001c0002t0003g0106 a0001c0002t0003g0107	7	468	0.0150	50	c.-6- others(65): Show c.-6-3139_-6-3138insGTATATGTGTGTGTATGTGTGTGTATATGC GTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370579	A A	ATATGTGT others(43): Show ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTATATGT G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01123.hp2 others(8): Show HG00741.hp2 HG01070.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0013 a0001c0002t0008 a0001c0002t0013	a0001c0002t0008g0019 a0001c0002t0008g0112 a0001c0002t0008g0113 others(7): Show a0001c0002t0008g0019 a0001c0002t0008g0112 a0001c0002t0008g0113 a0001c0002t0008g0114 a0001c0002t0008g0118 a0001c0002t0008g0119 a0001c0002t0008g0120 a0001c0002t0008g0167 a0001c0002t0008g0168 a0001c0002t0013g0117	11	468	0.0235	50	c.-6- others(65): Show c.-6-3135_-6-3134insATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTATATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370579	A A	ATATGTGT others(43): Show ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGT G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0131 a0001c0002t0003g0131	1	468	0.0021	50	c.-6- others(65): Show c.-6-3135_-6-3134insATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UEVLD_chr11_18524609_18593734	18560090	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	400	0.0025	50	c.613 others(67): Show c.613-1761_613-1760insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18941.hp2 NA18962.hp2 HG00738.hp1 NA18941.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0003t0014 a0001c0001t0004 a0001c0003t0002 a0001c0003t0014	a0001c0001t0004g0053 a0001c0003t0002g0170 a0001c0003t0014g0174 a0001c0001t0004g0053 a0001c0003t0002g0170 a0001c0003t0014g0174	3	332	0.0090	50	c.522 others(65): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	410	0.0024	50	c.-10 others(61): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
ULK2_chr17_19765830_19872936	19814411	C C	CATATATA others(43): Show CATATATATACATATATATATATATATACACATATATATATATACATATA T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0211 a0001c0003t0004g0211	1	288	0.0035	50	c.109 others(69): Show c.1096+2337_1096+2338insATATATGTATATATATATATGTGTAT ATATATATATATATGTATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814411	C C	CATATATA others(43): Show CATATATATACATATATATATATATATATACATATATATATATACATATA T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18975.hp1 NA18980.hp1 others(3): Show NA18944.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18999.hp2 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0215 a0001c0003t0004g0216 a0001c0003t0004g0217 others(3): Show a0001c0003t0004g0215 a0001c0003t0004g0216 a0001c0003t0004g0217 a0001c0003t0004g0222 a0001c0003t0004g0224 a0001c0003t0004g0225	6	288	0.0208	50	c.109 others(69): Show c.1096+2337_1096+2338insATATATGTATATATATATATGTATAT ATATATATATATATGTATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
UMAD1_chr7_7635752_7884223	7678697	T T	TATATATT others(43): Show TATATATTTATATATTTAGTTTATAAATATATTTATATATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0231 a0001c0001t0055g0231	1	250	0.0040	50	c.82+ others(65): Show c.82+5275_82+5276insTTATATATTTAGTTTATAAATATATTTATA TATTTAGTTTATAAATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678699	T T	TATATTTA others(43): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0024 a0001c0001t0072g0024	1	250	0.0040	50	c.82+ others(65): Show c.82+5281_82+5282insGTATTTAGTTTATAAATATTTATATATTTA GTTTATAAATATATATTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42078235	T T	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02723.hp2 others(6): Show HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp2 HG03688.hp1 HG03710.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0026 a0047 a0052	a0001c0001 a0002c0005 a0003c0109 others(4): Show a0001c0001 a0002c0005 a0003c0109 a0004c0033 a0026c0108 a0047c0049 a0052c0124	a0001c0001t0034 a0002c0005t0001 a0002c0005t0005 others(5): Show a0001c0001t0034 a0002c0005t0001 a0002c0005t0005 a0003c0109t0001 a0004c0033t0002 a0026c0108t0026 a0047c0049t0002 a0052c0124t0006	a0001c0001t0034g0309 a0002c0005t0001g0394 a0002c0005t0005g0354 others(6): Show a0001c0001t0034g0309 a0002c0005t0001g0394 a0002c0005t0005g0354 a0002c0005t0005g0355 a0003c0109t0001g0305 a0004c0033t0002g0335 a0026c0108t0026g0306 a0047c0049t0002g0266 a0052c0124t0006g0284	9	400	0.0225	50	c.319 others(67): Show c.319+2050_319+2099dupGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078396	C C	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 NA19078.hp1 HG00408.hp2 HG02015.hp2 NA19078.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0002 a0001c0001 a0005c0002	a0001c0001t0003 a0005c0002t0002 a0001c0001t0003 a0005c0002t0002	a0001c0001t0003g0311 a0005c0002t0002g0173 a0005c0002t0002g0300 a0001c0001t0003g0311 a0005c0002t0002g0173 a0005c0002t0002g0300	3	400	0.0075	50	c.319 others(67): Show c.319+2192_319+2193insGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078535	C C	CAGAAACC others(43): Show CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG03041.hp2 HG01099.hp1 HG02486.hp2 HG03041.hp2	a0001 a0052 a0001 a0052	a0001c0001 a0052c0124 a0001c0001 a0052c0124	a0001c0001t0005 a0001c0001t0034 a0052c0124t0006 a0001c0001t0005 a0001c0001t0034 a0052c0124t0006	a0001c0001t0005g0333 a0001c0001t0034g0309 a0052c0124t0006g0284 a0001c0001t0005g0333 a0001c0001t0034g0309 a0052c0124t0006g0284	3	400	0.0075	50	c.319 others(67): Show c.319+2338_319+2387dupTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078585	T T	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02165.hp2 HG02647.hp1 others(4): Show HG02145.hp1 HG02165.hp2 HG02647.hp1 HG02895.hp1 HG06807.hp1 NA18522.hp2 NA18955.hp1	a0002 a0020 a0105 others(3): Show a0002 a0020 a0105 a0107 a0109 a0126	a0002c0156 a0002c0157 a0020c0195 others(4): Show a0002c0156 a0002c0157 a0020c0195 a0105c0159 a0107c0153 a0109c0190 a0126c0086	a0002c0156t0001 a0002c0157t0031 a0020c0195t0004 others(4): Show a0002c0156t0001 a0002c0157t0031 a0020c0195t0004 a0105c0159t0001 a0107c0153t0006 a0109c0190t0002 a0126c0086t0002	a0002c0156t0001g0372 a0002c0157t0031g0374 a0020c0195t0004g0195 others(4): Show a0002c0156t0001g0372 a0002c0157t0031g0374 a0020c0195t0004g0195 a0105c0159t0001g0373 a0107c0153t0006g0375 a0109c0190t0002g0392 a0126c0086t0002g0218	7	400	0.0175	50	c.319 others(67): Show c.319+2450_319+2499dupGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078696	C C	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0031 a0031	a0031c0028 a0031c0028	a0031c0028t0001 a0031c0028t0001	a0031c0028t0001g0148 a0031c0028t0001g0148	1	400	0.0025	50	c.319 others(67): Show c.319+2492_319+2493insGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078697	G G	GGGGCCAG others(43): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01346.hp2 others(38): Show HG00733.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02056.hp2 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02976.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19012.hp2 NA19064.hp2 NA19090.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0026 a0031 a0032 a0033 a0040 a0045 a0046 a0047 a0053 a0064 a0072 a0092	a0001c0001 a0001c0008 a0002c0005 others(23): Show a0001c0001 a0001c0008 a0002c0005 a0003c0003 a0003c0109 a0004c0006 a0004c0033 a0004c0196 a0005c0002 a0007c0011 a0008c0026 a0009c0018 a0009c0110 a0026c0108 a0031c0028 a0032c0094 a0033c0088 a0040c0069 a0040c0073 a0045c0047 a0046c0093 a0047c0049 a0053c0183 a0064c0068 a0072c0074 a0092c0096	a0001c0001t0001 a0001c0008t0036 a0002c0005t0005 others(25): Show a0001c0001t0001 a0001c0008t0036 a0002c0005t0005 a0003c0003t0001 a0003c0109t0001 a0004c0006t0002 a0004c0033t0002 a0004c0196t0024 a0005c0002t0002 a0007c0011t0001 a0007c0011t0003 a0008c0026t0003 a0009c0018t0004 a0009c0018t0019 a0009c0110t0004 a0026c0108t0026 a0031c0028t0003 a0032c0094t0002 a0033c0088t0004 a0040c0069t0005 a0040c0073t0005 a0045c0047t0016 a0046c0093t0005 a0047c0049t0002 a0053c0183t0002 a0064c0068t0002 a0072c0074t0003 a0092c0096t0003	a0001c0001t0001g0338 a0001c0008t0036g0346 a0002c0005t0005g0354 others(38): Show a0001c0001t0001g0338 a0001c0008t0036g0346 a0002c0005t0005g0354 a0002c0005t0005g0355 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0109t0001g0305 a0004c0006t0002g0393 a0004c0033t0002g0335 a0004c0196t0024g0090 a0005c0002t0002g0091 a0005c0002t0002g0092 a0005c0002t0002g0093 a0005c0002t0002g0096 a0005c0002t0002g0098 a0005c0002t0002g0314 a0007c0011t0001g0348 a0007c0011t0003g0302 a0007c0011t0003g0339 a0008c0026t0003g0310 a0008c0026t0003g0328 a0009c0018t0004g0344 a0009c0018t0004g0347 a0009c0018t0019g0294 a0009c0110t0004g0312 a0026c0108t0026g0306 a0031c0028t0003g0298 a0032c0094t0002g0095 a0033c0088t0004g0233 a0040c0069t0005g0391 a0040c0073t0005g0321 a0045c0047t0016g0297 a0046c0093t0005g0094 a0047c0049t0002g0266 a0047c0049t0002g0288 a0053c0183t0002g0303 a0064c0068t0002g0282 a0072c0074t0003g0313 a0092c0096t0003g0293	41	400	0.1025	50	c.319 others(67): Show c.319+2473_319+2522dupCACCTCCATCACCAACAGAAACCAGGCA GGGCCAGCTGACCCCAGAGCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078735	C C	CAGAAACC others(43): Show CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0394 a0002c0005t0001g0394	1	400	0.0025	50	c.319 others(67): Show c.319+2499_319+2500insCGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAATAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0078 a0005c0011t0003g0078	1	158	0.0063	50	c.493 others(71): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0154 a0001c0007t0012g0154	1	158	0.0063	50	c.493 others(71): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5B_chr10_71207570_71307864	71227617	T T	TACATATA others(43): Show TACATATATATACACATACATATATATATACATATATACATATATATACA C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0137 a0001c0002t0058g0137	1	368	0.0027	50	c.79+ others(67): Show c.79+14554_79+14555insCATATATATACACATACATATATATATA CATATATACATATATATACACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296727	T T	TACCACTC others(43): Show TACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCA C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0022 a0022	a0022c0045 a0022c0045	a0022c0045t0004 a0022c0045t0004	a0022c0045t0004g0162 a0022c0045t0004g0162	1	368	0.0027	50	c.248 others(62): Show c.2481_2490+40dupTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATA TTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296762	C C	CATATTCC others(43): Show CATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 HG01361.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0074 a0001c0001t0017 a0001c0001t0074	a0001c0001t0017g0173 a0001c0001t0074g0059 a0001c0001t0017g0173 a0001c0001t0074g0059	2	368	0.0054	50	c.249 others(65): Show c.2490+40_2490+41insGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296783	A A	ACTGGCGG others(43): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG02257.hp1 others(10): Show HG00408.hp1 HG01081.hp2 HG02257.hp1 HG02615.hp1 HG02886.hp2 HG03195.hp1 HG03225.hp2 NA18612.hp2 NA18962.hp2 NA18990.hp1 NA19002.hp1 NA19054.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0004t0003 a0002c0005t0001 a0002c0005t0002 a0005c0011t0010	a0001c0001t0001g0174 a0001c0001t0002g0082 a0001c0001t0002g0314 others(10): Show a0001c0001t0001g0174 a0001c0001t0002g0082 a0001c0001t0002g0314 a0001c0001t0005g0101 a0001c0001t0006g0060 a0001c0001t0007g0335 a0001c0002t0001g0303 a0001c0004t0003g0030 a0001c0004t0003g0238 a0002c0005t0001g0254 a0002c0005t0002g0242 a0005c0011t0010g0107 a0005c0011t0010g0134	13	368	0.0353	50	c.249 others(67): Show c.2490+163_2490+212dupTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296812	G G	GATATTCC others(43): Show GATATTCCAGCTGCACACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03831.hp1 HG02486.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0008 a0001c0001t0010 a0001c0003t0008	a0001c0001t0010g0161 a0001c0003t0008g0100 a0001c0001t0010g0161 a0001c0003t0008g0100	2	368	0.0054	50	c.249 others(65): Show c.2490+90_2490+91insTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296812	G G	GATATTCC others(43): Show GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0039 a0015c0036t0039	a0015c0036t0039g0347 a0015c0036t0039g0347	1	368	0.0027	50	c.249 others(65): Show c.2490+84_2490+85insTACCACTCTGGCAGAGGTGAGGGAAGTCGG GGCCACATATTCCAGCTGCA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296833	G G	GCTGGCGG others(43): Show GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG02145.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0326 a0001c0001t0007g0349 a0001c0001t0007g0326 a0001c0001t0007g0349	2	368	0.0054	50	c.249 others(67): Show c.2490+140_2490+141insACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296862	G G	GATATTCC others(43): Show GATATTCCAGCTGCACACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0011 a0007c0017t0011	a0007c0017t0011g0354 a0007c0017t0011g0354	1	368	0.0027	50	c.249 others(67): Show c.2490+140_2490+141insTCTGGCAGAGGTGAGGGAAGTCGGGGCC ACATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296920	A A	AGCTGCAC others(43): Show AGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCC G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01169.hp1 others(6): Show HG00140.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG03239.hp2 HG03654.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0074	a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0001g0193 others(6): Show a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0001t0001g0301 a0001c0001t0001g0332 a0001c0001t0004g0237 a0001c0001t0017g0173 a0001c0001t0074g0059	9	368	0.0245	50	c.249 others(67): Show c.2490+212_2490+213insTGGGGCAGATATTCCGGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(43): Show AATATATATATATATATAAATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 NA18969.hp2 HG00544.hp2 HG01074.hp1 NA18969.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0006 a0004c0022 a0001c0005 a0001c0006 a0004c0022	a0001c0005t0001 a0001c0006t0001 a0004c0022t0015 a0001c0005t0001 a0001c0006t0001 a0004c0022t0015	a0001c0005t0001g0119 a0001c0006t0001g0007 a0004c0022t0015g0149 a0001c0005t0001g0119 a0001c0006t0001g0007 a0004c0022t0015g0149	3	204	0.0147	50	c.595 others(67): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT ATATTTATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPK3BL1_chr7_102632025_102647791	102646940	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19081.hp1 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0099 a0001c0001t0018g0063 a0001c0001t0001g0099 a0001c0001t0018g0063	2	140	0.0143	50	c.-42 others(61): Show c.-4200_-4199insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4150		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547837	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG03239.hp1 HG01168.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0104 a0001c0001t0017g0117 a0001c0001t0009g0104 a0001c0001t0017g0117	2	182	0.0110	50	c.-42 others(61): Show c.-4202_-4201insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4142		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	256	0.0039	50	c.573 others(67): Show c.573+8271_573+8272insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0053 a0009c0053	a0009c0053t0001 a0009c0053t0001	a0009c0053t0001g0062 a0009c0053t0001g0062	1	74	0.0135	50	c.113 others(67): Show c.11390-52_11390-51insCACACACACACACACATATATATATATA TATATATATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179727799	C C	CCCCCCCC others(43): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTG A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0230 a0001c0001t0030g0230	1	300	0.0033	50	c.108 others(69): Show c.1089-2382_1089-2381insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGCTGACCCCCCCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP40_chr2_233470526_233571782	233494962	A A	ATATATAT others(43): Show ATATATATATATTTATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0137 a0002c0002t0001g0138	2	324	0.0062	50	c.279 others(69): Show c.2791-1412_2791-1411insAATATATATATATATATATATATATA TATATATATATAAATATATATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP40_chr2_233470526_233571782	233567866	A A	ATAGTTAT others(43): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	324	0.0031	50	c.-12 others(61): Show c.-1203_-1202insATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1085		chr2	TogoVar
USP40_chr2_233470526_233571782	233567996	A A	ATAGTTAT others(43): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG01891.hp1 others(1): Show HG00280.hp1 HG01261.hp2 HG01891.hp1 HG02572.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0029 a0001c0001 a0021c0029	a0001c0001t0001 a0021c0029t0001 a0001c0001t0001 a0021c0029t0001	a0001c0001t0001g0225 a0001c0001t0001g0250 a0001c0001t0001g0268 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0250 a0001c0001t0001g0268 a0021c0029t0001g0282	4	324	0.0124	50	c.-13 others(61): Show c.-1333_-1332insATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1215		chr2	TogoVar

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